WE ARE FULLY BOOKED – BUT PLEASE, DO REGISTER AND JOIN US FOR THE EVENT, WE MAY HAVE SOME LAST MINUTE CANCELLATIONS.
Cambridge Rare Disease Network (CRDN) will host its launch event on the topic of “Parent Entrepreneurship – When parents start companies to cure their child.”
Confirmed speakers are:
Mr Alastair Kent OBE, Director of Genetic Alliance UK;
Dr Nick Sireau, Founder of AKU Society and Findacure;
Ms Kay Parkinson, Founder of ASUK Society;
Dr Will Evans, Trustee of Niemann-Pick Disease Group;
Dr Cesare Spadoni, Founder of aPODD Foundation.
The event is kindly supported by Genetic Disorders UK, Findacure, Utah Rare, Cambridge Judge Business School, Innovation Forum, One Nucleus, Global Biotech Revolution and Stevenage Bioscience Catalyst.
17.00: Welcome networking
17.30: Lecture & panel discussion and Q&A’s.
19:00: Networking and drinks reception
Thank you for your interest. We would appreciate it if you would share this event with colleagues and friends who might be interested.
WE ARE FULLY BOOKED – please do register on the waitlist and join us early, we do expect some last minutes dropouts.
Genomic medicine is changing our world. The rapid decrease of the price of DNA sequencing has opened up numerous new possibilities, and is starting to enter clinical practice.
However, even though we understand the genetic causes of 50% of rare diseases, early diagnostics remains a challenge. In the UK, it still takes an average of 6 years and visits to 8 doctors to get a diagnosis, and many people never get an answer at all.
By scanning through entire genomes at once, DNA sequencing has the potential to change this. Come discuss the opportunities and the challenges of this new technology in a clinical setting, with some of the experts in the field.
17.30: Doors open.
18.00: Lecture/panel discussion and Q&A’s (10-15 min per speaker).
19.30: Wine reception.
21.00: End of event.
Dr Caroline Wright, Project Manager, DDD project
Dr Gemma Chandratillake, Genetic Counsellor and Product Manager, Personalis
Dr Fiona Nielsen, Founder of DNAdigest
Dr Sobia Raza, Science Programme Lead, PHG Foundation
We are looking forward seeing you at the event.
With warm wishes,
The CRDN Team
CRDN is a non-profit organisation aiming to createrare disease awareness and build a community within the Cambridge area. We are kindly supported by Findacure, Rare Disease UK, Genetic Disorders UK, Utah Rare, Cambridge Judge Business School, One Nucleus, BioBeat, Innovation Forum, Stevenage Bioscience Catalyst and Global Biotech Revolution, amongst others.
Cambridge Rare Disease Network is holding its first annual conference, the Cambridge Rare Disease Summit 2015, at the Cambridge Judge Business School. We’re bringing together 150 key stakeholders to debate how to best address the huge social and therapeutic unmet needs around rare diseases. We will discuss topics ranging from Alternative Funding Strategies, New Rare Disease Initiatives on the Horizon, the Potential of the Cambridge Cluster and Engaging with Pharma. Come and join us and add your thoughts, ideas and questions to the day.
We have an exciting line-up of speakers who are leaders in their fields. To include: Keynote video message for Prof Stephen Hawking, Centre for Theoretical Cosmology, University of Cambridge; Prof Sir Gregory Winter, Master of Trinity College and Co-Founder of Cambridge Antibody Technology; Associate Prof Matt Might, Parent Entrepreneur and Founder at NGLY1.org; Prof Steve Jackson, Head of CRUK at Gurdon Institute, Dr Nick Sireau, Founder of Findacure and AKU Society; Mr Alastair Kent, OBE, Director Genetic Alliance UK and Founder of Rare Disease UK; Ms Kay Parkinson, Founder of Alstrom Syndrom UK/EU; Dr Hermann Hauser, Founder of ARM and Amadeus Capital; Dr Bruce Bloom, President of Cures Within Reach; Prof Alan Barrell, Judge Business School; Dr Jonathan Milner, Founder of Abcam; and Dr Darrin Disley, Chief Executive, Horizon Discovery;Dr Anne Dobree, Head of Seed Fund, Cambridge Enterprise, amongst many others.
Following the summit we will be hosting a drinks reception to which you are warmly invited. We invite you to then attend our gala dinner at St.Catherine’s College, Trumpington Street to close the evening.
Is there a need for a rare disease home nursing service? Join our debate.
Join us on Thursday 17 March to share your views, ideas and solutions at an event chaired by Alastair Kent, Director of Genetic Alliance UK, and hosted by the Cambridge Rare Disease Network.
When: 6:00-9:00pm, Thursday 17th March Where: Cambridge Judge Business School Cost: free
About the event
Hiran Prag from the Cambridge Consulting Network will present the findings of his team’s report into the feasibility of a home nursing service, commissioned by CRDN.
Dr Larissa Kerecuk, Rare Disease Lead at Birmingham Children’s Hospital will also join us to share her knowledge and experience in this field. She will be accompanied by nurses she is working with from different organisations including their new nurses funded by Roald Dahl’s Marvellous Children’s Charity.
Also joining the panel is Helena Baker, Vice President of Nursing from the Medical Research Network http://www.themrn.co.uk
Following a discussion led by Alastair Kent OBE, you’ll have the chance to discuss these ideas further and network over a glass of wine or a soft drink.
Topics for discussion
To get you thinking, these are some of the themes we’ll be discussing:
* Rare disease and the need for specialist nursing
* Global nursing organisations
* Funding mechanisms of nursing organisations
* Rare disease in Cambridge, the UK and existing nursing services
What can Cambridge contribute to global efforts in rare disease research?
Who’s leading the way in collaborative, innovative research, treatment and care for those with rare diseases?
How can we put patients and their families at the centre of all discussions?
Hear from those leading the way in rare diseases
Where: Robinson College, University of Cambridge
When: Tuesday 25 October 2016
Costs: tiered pricing, with discount tickets for patient support groups, start-ups and students
Following the sell-out success of its first summit in 2015, the Cambridge Rare Disease Network is once again bringing international leaders and local experts together in Cambridge to bridge the gap between research, industry, business and patient groups.
Anchored by powerful patient voices, this one-day conference will explore:
international rare disease innovations
new rare disease initiatives on the horizon
innovations in health
engaging and collaborating with pharma.
A wide delegate base, representing academia, healthcare, industry, business, patients support groups and more will allow delegates to explore potential collaborations and gain a broader understanding of opportunities in rare diseases.
Confirmed speakers include:
Avril Daly, Vice President of Eurordis
Ben Howlett MP, Chair of All Party Parliamentary Group (APPG) on rare, genetic and un-diagnosed conditions
Prof Patrick Maxwell, Regius Professor of Physic and Head of the School of Clinical Medicine of the University of Cambridge
Dr Tim Guilliams, CEO of Healx and Chair of CRDN
Dr Jonathan Milner, Chairman of Abcam plc and Milner Institute
James Taylor, Director of Corporate Development GlaxoSmithKline
Dr Andy Richards – Biotech Entrepreneur
Julie Walters – Founder of Raremark
Dr Lydia Meyer-Turkson – Consultant Business Strategy, Horizon Discovery USA
Dr Nick Sireau, Chairman of AKU Society and Findacure
Dr Olivier Menzel, President and Founder of BLACSWAN Foundation (Switzerland)
Alastair Kent, OBE, Director of Genetic Alliance UK and Chair of Rare Disease UK
Dr Paul Tunnah, CEO and Founder of Pharmaphorum Media
Karsten Barton, Head of Department, Frambu Centre for Rare Disorders (Norway)
Dr Alex Mackenzie – Care for Rare and Vice-Dean Research for the Department of Paediatrics at CHEO (Canada)
Dr Larissa Kerecuk – Rare Disease Lead at Birmingham Children’s Hospital
Dr Lucy Mackay, Co-Founder of Students4RareDisease
Dr Lucy Raymond, Professor of Medical Genetics and Neurodevelopment University of Cambridge
Daniel Lewi, CEO of Cure and Action for Tay-Sachs Foundation
Dr Birgitte Volck, Head of Research and Development, Rare Diseases, GlaxoSmithKline
Dr David Pardoe, Head of Growth Projects, MRC Technology
Prof Steve Jackson, Senior Group Leader and Head of CRUK Laboratories, Wellcome Trust/Cancer Research UK Gurdon Institute
Emily Kramer-Kolingoff – Co-Founder and Executive Board Member of Emily’s Entourage
Dr Femida Gwadry- Sridhar, Founder and CEO of Pulse Infoframe Inc
Rebecca Stewart, Co-Founder and editor of Rare Revolution Magazine and Co-Founder of The Teddington Trust
We are holding a Round Table of Companies inaguaral meeting as a breakout session
Charired by Dr Tim Guilliams, CEO Healx
Evolution Education Trust – Dr. Jonathan Milner
Horizon Discovery and Locus Genetics – Dr Lydia Myer-Turkson
GlaxoSmithKline – James Taylor
Sobi – Neil Dugdale
Alexion – Sarah Trafford-Jones
Raptor Pharmaceuticals – Amjad Hussain
Shire – Verity Thomas-James
Geneadvisor – Dr Jelena Aleksic
Dr Nick Ibery – Royal Society of Medicine
New Philanthropy Capital, – Rachel Wharton
Findacure – Flóra Raffai
CRDN – Kay Parkinson, Dr Moharem El Gihani
Emma Sutcliffe – Patient Centred
Dr Eija Makirintala – Altogame Ltd
We’re also thrilled to host examples of beautiful portrait photos of children with rare and undiagnosed conditions loaned to us by ‘Same But Different’ http://www.samebutdifferentcic.org.uk/rare-project/
Following the formal proceedings we will continue the conversation over drinks at Robinson College. We then invite you to attend our gala dinner in the Crausaz Wordsworth Building to close the evening.
NIHR Rare Disease Day Cambridge Lecture Tues 28 February 2017 from 6pm to 9pm at Cambridge Judge Business School
Jointly hosted by
NIHR Rare Diseases Translational Research Collaboration
Cambridge Rare Disease Network
The evening highlights Rare Disease Day and Rare Disease Research
Are you interested in Rare Disease research?
If the answer is yes then this evening lecture and networking opportunity will be of interest to you.
It will Include:
Updates about rare disease research
Hearing from speakers directly affected by rare disease
An opportunity to talk with researchers and professionals
To connect with other patients and carers
Drinks and nibbles after the speakers
With representatives from Rare Disease Community, Patients, charities and researchers the evening offers fantastic opportunities for networking and information sharing.
About Rare Disease Day
2017 marks the 10th year that the internationally rare disease community will celebrate Rare Disease Day.
On 28 February 2017, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.
What are my transport/parking options for getting to and from the event?
Cambridge Judge Business School (the old Addenbrookes) is located directly opposite the Fitzwilliam Museum on Trumpington Street. There is metered parking along Trumpington Street, or you may prefer to park at the Grand Arcade shopping centre’s car park, which is just five minutes’ walk from the School.
Cambridge Judge Business School is a ten-minute taxi ride from the rail station and taxis can be found outside the station entrance. Cambridge city centre bus station on Drummer Street, is less than 10 minutes’ walk from the School. Bicycle racks can be found at the front of the school.
Where can I contact the organiser with any questions?
Venue: Robinson College, Cambridge will be hosting our event on 23rd October 2017
Costing: tiered pricing with early bird tickets and discount tickets for patients and patient groups, students and start-ups.
This day long event seeks to create a forum that brings together patient groups, healthcare, academics, researchers, biotech companies, and the pharmaceutical industry in a spirit of collaboration, innovation and passion to re-imagine and re-invent the Rare Disease patient journey.
Theme for Cambridge Rare Disease Summit: “Re-imagining the Patient Journey”
We will provide a morning of exploration of inspirational Rare Disease patient journeys where patients and patient carers have been partners in healthcare and treatment development. Take a walk with us through case-studies from early symptoms, dead-ends and steps forward to diagnosis, patient group formation, campaigning and research to pharma collaboration and drug development.
The afternoon will showcase pioneering work being undertaken in Cambridge and around the world to re-imagine and re-write the endings of Rare Disease Patient journeys from gene editing, drug re -purposing and pharma ‘adoption’ of rare diseases to empowering patient revolution, rare disease search engines and rare disease telemedicine nursing.
NEW FOR Cambridge Rare Disease Summit 2017
Patient groups have an opportunity to showcase posters in a Patient Journey gallery and all delegates will enjoy wide networking opportunities with exhibition stand holders from industry and patient organisations. For poster submissions guidelines see here https://camraredisease.org/index.php/crdn-summit-20..
Students4RareDiseases will be hosting a breakout session from 11 – 12.30pm. A range of speakers will give an overview for foundation doctors, medics and healthcare professionals in early stage training, GP registrars, nurses, pharmacists etc. Hear about the Rare Disease patient journey, the utility of the diagnosis, red flags, the 100,000 Genome Project and family planning https://en-gb.facebook.com/S4RDcam/ students4rarediseases.org/
No Isolation, a Norwegian tech company, will run a workshop showcasing their AV1 Avatar, a small robot designed to reduce isolation and encourage participation and interaction in education and daily life for children with chronic, lifelong illnesses.
Dr Ségolène Aymé – Emeritus Director of Research at the French Institute of Health and Medical Research (INSERM). Expert in residence for rare diseases at the Brain and Spine Institute in Paris, and Founder and Editor-in- Chief, Orphanet Journal of Rare Diseases. Opening keynote speaker
Prof Bobby Gaspar – GOSHCC Professor of Paediatrics and Immunology, Consultant in Paediatric Immunology, Head, Rare Diseases Theme, Head, Molecular and Cellular Immunology Section, Infection, Immunity and Inflammation Molecular and Cellular Section, UCL Great Ormond Street Institute of Child Health
Dr Ana Mingorance – Dracaena Consulting, Chasing cures for neurological and rare diseases and author of eBook #ImpatientRevolution
Dr Rick Thompson – CEO and Head of Research, Finadacure, a Cambridge based charity empowering Rare Disease patients and developing drug re-purposing projects
Neil Dugdale – General Manager, UK and RoI, Sobi, Rare Disease pharmaceutical company
Kay Parkinson – CEO of CRDN and Alstrom Europe
Juliet Moritz – Executive Director, Patient Engagement and Strategic Development, Premier Research
David Rose, CRDN Volunteer and GOSH speaker living with ultra-rare Occipital Horn Syndrome “My Patient Journey and What Research Means to Me”
Dr Victoria ER Parker, Consultant in Endocrinolgy and member of the Segmental Overgrowth Study at WT-MRC Institute of Metabolic Science (IMS), Addenbrooke’s Hospital presenting the results of their clinical trial of sirolimus in PIK3CA related overgrowth
Professor Fiona Karet, Prof of Nephrology and Consultant in Renal Medicine at the School of Clinical Medicine, Cambridge whose team’s research explores kidney malfunction and mutations of genes in rare kidney conditions such as Gitelman Syndrome. They also study common inherited kidney disorders such as polycystic kidney disease.
Dr Ian Roberts, Chief Technology Officer for Healx Ltd “Drug re-purposing for Rare Diseases”
Dr Suthesh Sivaplaaratnam, Clinical Research Fellow at the University of Cambridge ” New gene discovery in bleeding disorders:From living room to supercomputers” he will explain how they undertake family studies, why they are so useful and how data is used.
About Rare Disease Day
2018 marks the 11th year that the internationally rare disease community will celebrate Rare Disease Day.
On 28 February 2018, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.
What are my transport/parking options for getting to and from the event?
Car parking is available at a discounted rate of £3.60 (the cheaper all day rate) in car park 1 only, this is the closest car park to the Clinical School. The entrance to car park 1 is opposite the Cambridge Blood Centre.
On entering the car park take a ticket from the machine at the barrier, there are 750 spaces (63 disabled spaces). Take the exit on the ground floor walking towards the Main Hospital. At the end of the ramp (covered walk way) you’ll find the Clinical School’s entrance directly across the road.
On returning to your car, go to the customer service desk on the ground floor. Show the attendant your Eventbrite ticket and for £3.60 they will give you a replacement ticket to use when exiting the car park.
You are warmly invited to join the Cambridge Rare Disease Network on a guided tour of Cambridgeshire’s Sanger Institute, at the renowned Wellcome Genome Campus, on Monday March 5 2018.
This invitation is extended to all of the patients and patient groups who were involved in the Patient Journey poster booklet and exhibition for the #CRDN2017 summit as a thank them for your wonderful contribution to the event and in raising awareness about rare disease.
When: Mon 5 March, 11am – 2pm
Where: The Sanger Institute, Wellcome Genome Campus is located 9 miles south of Cambridge. You can find information on how to get to the campus on their website
Who: the group size will be minimum 15 and maximum 25. Invites are given as priority to poster creators but we realise that distance will be an obstacle for many of you. If needed we will extend the invite to others involved in the summit as speakers, supporters or volunteers and to parents of our Unique Feet children’s group.
What: A 3 hour visit to include….
An introduction to the campus
A tour of the campus including the data and sequencing centre
A talk by Prof Matthew Hurles. Matthew leads on the Deciphering Developmental Disorders (DDD) Study, the Prenatal Assessment of Genomes and Exomes (PAGE) Study and the DECIPHER project. You can read more about his work and the various projects in this link http://www.sanger.ac.uk/people/directory/hurles-matthew and can see recent coverage of his work on the BBC
Other info: There will be complimentary refreshments provided for the group.
Are there ID or minimum age requirements to enter the event?
Open to over 18s
What are my transport/parking options for getting to and from the event?
See link above for location and transport options. There are disabled parking spaces and a pre-bookable mobility scooter and wheeelchairs. We can look into taxi and lift-shares.
How can I contact the organiser with any questions?
Pint of Science Rare Disease: The Genomic Revolution – Searching for a Cure for the 1 in 17. Rare diseases are conditions which affect fewer than 1 in 2,000 people but 1 in 17 are affected at some stage in their lives, some 3.5 million in the UK alone. 75% of rare diseases affect children and include rare cancers and well known conditions, such as cystic fibrosis and Huntington’s disease. 80% of rare diseases are caused by a defect in the genetic blueprint, sometimes a single spelling mistake in the three billion letters that make up the human genome, yet it can have devastating consequences for those living with the rare disease and their families.
New breakthroughs in genomic medici…
Snip, snip, snip: Correcting Defects in the Genetic Blueprint
Many rare diseases are caused by a defect in the genetic blueprint that carries the instruction manual for life. Sometimes the mistake can be a single letter in the three billion letters that make up the genome, with devastating consequences. Gene editing using ‘molecular scissors’ that snip out and replace faulty DNA could provide an almost unimaginable future for some patients: a complete cure.
Living with a Rare Neurological Disease: A Dad and Genetic Scientist Explores the Patient and Parent’s Perspective
Genome sequencing and the 100,000 genomes project has led to breakthroughs in shortening the diagnostic odyssey and informing care for some with rare diseases. Charles, genetic scientist of 25 years and father to a child with a rare neurological condition, is involved in the project as a participant, parent and consultant. He explores the ups and downs faced by families trying to search for and understand the cause of their child’s disease.
“It’s Not All in My Head!”: The Complex Relationship between Rare Diseases and Mental Health Problems
Rebecca Nunn, Medical Student at the University of Cambridge and owner of a rare disease, argues that the common experiences of rare disease patients have impacts upon the way in which their psychiatric care should be offered and managed, and that sensitivity and understanding surrounding these issues should be considered a necessary part of effective care for rare disease patients.
Cambridge Rare Disease Network brings a sip of Rare to the Cambridge Pint of Science Festival!
A rare disease is one that affects fewer than 1 in 2000 people. You might wonder why anyone would dedicate their life to studying a disease when only a handful of people would benefit from a cure? Why not study one of the big killers, such as cancer, tuberculosis or malaria? The significance of rare diseases is often not realised by people outside of the field, but they can provide valuable insights into the causes and progression of far more common diseases, help us better understand the fundamentals of modern science and medicine, and also lead to the development of life-saving drugs.
New Finding! Mutations outside of genes contribute to severe neurodevelopmental disorders
The Deciphering Developmental Disorders project has sequenced the genome from nearly 10,000 families across the UK and Northern Ireland with one or more affected children. Despite these efforts, more than 50% of the families in this study remain without a genetic diagnosis. Patrick will share new findings about how mutations are disrupting the expression of important genes in early brain development and highlight some of the global efforts to share data and sequence the genomes of hundreds of thousands of families.
Rheum with a view: Through the looking glass into rare joint diseases
Rare inflammatory bone diseases cause significant pain and swelling of bones and joints. In partnership with the NIHR BioResource Jagtar will establish a national patient cohort that will allow us to look into the genetics of these diseases and also carry out clinical trials. In this talk he will explore what rare diseases can teach us about the common and the immense power of patient cohorts and patient participation in research
Unpicking the Genetic basis of Intellectual Disability
Professor Lucy Raymond (Professor of Medical Genetics and Neurodevelopment and Honorary Consultant at the Cambridge Institute for Medical Research, University of Cambridge. Her group aim to identify and understand the genetic causes of intellectual disability and their work has identified a number of new syndromes and greater understanding of the sequence variation of the human genome.) @imagineidnews
Intellectual disability is present in 0.5% of the population and affected individuals may have difficulty learning and developing skills for everyday life. My research goal is to understand the genetic changes that present in the DNA of these patients, in the hope of characterizing the causes. My team has conducted detailed analysis of the whole DNA genome in affected families, allowing them to identify novel genes that contribute to disease. I will explain the vital role their participation plays in a collaborative initiative to analyse the genomes of 10,000 patients in unprecedented detail.
Pint of Science is a grassroots non-profit organisation that has grown astronomically over the few years since two people decided to share their research in the pub. Although our mission has expanded, our core values remain the same: to provide a space for researchers and members of the public alike to come together, be curious, and chat about research in a relaxed environment outside of mysterious laboratories or daunting dark lecture theatres. We believe that everyone has a place at the table to discuss the research going on both on our doorsteps and far beyond. Our missions and visions are based around the people that matter most: our audience, volunteers, speakers, and our wider research community.
Develop a space where audiences are engaged with research; where walls are broken down and everyone has the opportunity to share their thoughts, questions and ideas.
Provide event organisers with the tools to allow them to use their own creativity and plan events showcasing the research that is going on in their area, whilst developing cross-disciplinary skills that will prove valuable in the workplace and beyond.
Equip speakers with training to refine and develop their public engagement skills and give them the confidence to share their story in an approachable manner with a new audience.
Push forward research and trust in science by encouraging open and transparent conversations between the research community and the wider public, and in turn develop a culture of good public engagement which is accessible to all.
To foster an environment for the audience in which everyone is comfortable to attend, engage and cultivate curiosity.
To instill confidence, nurture key skills and provide a platform for event organisers to carry out public engagement in the community.
To inspire speakers to view public engagement as a creative outlet, and a worthwhile part of their work.
To encourage a world where anyone can have an opinion on science, developing new research ideas through a conversation where everyone can be involved.
In 2012 Dr Michael Motskin and Dr Praveen Paul were two research scientists at Imperial College London. They started and organised an event called ‘Meet the Researchers’. It brought people affected by Parkinson’s, Alzheimer’s, motor neurone disease and multiple sclerosis into their labs to show them the kind of research they do. It was inspirational for both visitors and researchers. They thought if people want to come into labs to meet scientists, why not bring the scientists out to the people? And so Pint of Science was born. In May 2013 they held the first Pint of Science festival in just three cities. It quickly took off around the world and now happens in nearly 400 cities. Read more here. Pint of Science received a Points of Light award by the Prime Minister in recognition of voluntary work and making a change in the community.
We are non-profit and ticket costs were introduced to ensure that we could become sustainable rather than a one-off. As well as our dedicated volunteers, Pint of Science relies on ticket money, donations, sponsors, and the universities and institutions involved to keep going. We’ve never received large grants or pots of money, we don’t even have an office. We’re built on the dedication, enthusiasm and commitment of all involved in organising and attending, as well as an occasional pint!
RAREfest18 is coming….Join us at the Guildhall on the Market Square in Cambridge for the launch of a brand new science, technology and arts festival for Cambridge! This #RAREfest18 launch event is an evening featuring powerful rare stories and talent expressed through both musical and dance performances…
Full line-up and information about this launch evening and the main RAREfest exhibition, films and talks event here.Tickets must be booked through Cambridge Live.
RAREfest18! A first-of-its kind rare disease inspired festival conceived and brought to you by Cambridge Rare Disease Network (CRDN).
In Cambridge people come out in their droves to be dazzled and captivated by the annual Science Festival, it’s Festival of Ideas, the treasured Literary Festival and new to the circuit, Brainfest. We figured you simply can’t have too many festivals and it’s about time we had one of our own.
So, are you curious about the world? Are you fascinated by the wonders of medicine and science? Are you intrigued by how technology can make people’s lives better? Do you like to learn about other people’s lives and dispel some of the mystery? Then RAREfest18 is for you.
WHY ATTEND RAREfest18?
Free to attend, this 2 day festival is shaping up to be your winter highlight
Bring your friends, family and colleagues along to this exciting festival of hands-on science and technology exhibits, talks with experts and a rare film festival?
Don a lab coat and goggles, take a DNA taste test, peer down microscopes, play genetics games, meet actors and robots in the same room, test out virtual reality
Meet researchers, scientists, engineers, rare advocates and people involved in patient advocacy groups
Listen to talks with conference headsets, get involved, ask questions, dispel some of the myths
To find out more about Saturday’s exhibitors, speakers and films visit the Cambridge Rare Disease Network website where you’ll find more about the inspiration behind this new festival, meet the speakers, exhibitors and performers taking part, you can check out the short film showreel and meet the Cambridge Rare Disease Network team working behind the scenes. The full line-up is now available to view! You can also find information about our Cambridge Rarer Disease Network’s related RAREsilutions poster competition for schools. We have created 3 ‘Challenge Films’ which tell the story of a person affected by a rare condition who would like your help in creating a solution to an everyday problem they face. Can you help Vaila design a piece of fully accessible playground equipment for her daughter and all the other children in the village to enjoy? Or perhaps you can help Harsha design a device which would help her pull an airport trolley when she may also have her guide dog or cane to carry due to her rare form of blindness? The winning posters will be showcased at the exhibition.
Come and enjoy the whole RAREfest experience. Tickets are also available (and must pre-booked as this is a seated event) for the RAREfest launch evening event featuring rare speakers who have achieved incredible feats, rare musicians and our Cambridge Rare Disease Network children’s rare dance group, Unique Feet – a collective of 10 children with different rare conditions.
This RAREfest18 launch evening opens the festival bringing people with rare conditions to the Cambridge Guildhall stage to make you smile, laugh, feel motivated to act and leave filled with a healthy curiosity about this little-known area of science and life. Arrive early and stay late to enjoy a drink and socialise.
Places must be booked in advance. Get your free ticket through the Cambridge Live website here https://www.cambridgelivetrust.co.uk/tickets/events/rarefest-launch-event-2018
Adam Pearson, actor (Under the Skin) award-winning documentary and tv presenter and campaigner for disability rights will be ‘in conversation’ with Dagmar Bennett, a sculptor who has collaborated with Adam to create a hyper-realistic bust of him to raise awareness and prompt discussion about face equality. Adam lives with a rare condition called Neurobromatosis type 1.
A huge thank you to our sponsors for supporting this event – we couldn’t do it without you and your belief in our mission and vision.
Dr Isabelle Delon, PhD, Clinical Scientist, EMEE Genomic Laboratory Next Generation Children Projectwhich investigates the clinical utility of rapid whole genome sequencing for children in intensive care.
Dr Tomasz Matys, University Lecturer and Honorary Consultant in Radiology, Department of Radiology, University of Cambridge
Dr James Thaventhiran, Consultant Clinical Immunologist, Department of Medicine at the University of Cambridge ‘Whole Genome Sequencing for susceptibility to infectious disease, potential for patient benefits’
Closing Remarks: Dr Nathalie Kingston, Director of NIHR BioResource for Translational Research
About Rare Disease Day
2019 marks the twelfth year that the internationally rare disease community will celebrate Rare Disease Day.
On 28 February 2019, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases. This year’s theme is ‘Bridging health and social care’.
What are my transport/parking options for getting to and from the event?
Car parking is available at a discounted rate of £3.90 (the cheaper all day rate) in car park 1 only, this is the closest car park to the Clinical School. The entrance to car park 1 is opposite the Cambridge Blood Centre.
On entering the car park take a ticket from the machine at the barrier, there are 750 spaces (63 disabled spaces). Take the exit on the ground floor walking towards the main hospital. At the end of the ramp (covered walk way) you’ll find the Clinical School’s entrance directly across the road.
On returning to your car, go to the customer service desk on the ground floor. Show the attendant your Eventbrite ticket and for £3.90 they will give you a replacement ticket to use when exiting the car park.
Researching the rare to understand and treat the common. Why would researchers focus their efforts on a rare disease which affects so few? A rare disease affects less than 1 in 2000 so why dedicate your life to studying a disease affecting so few? Why not one of the big killers like cancer or malaria? Find out how rare disease research can provide valuable insights into common diseases, help us better understand the fundamentals of modern science and medicine, and lead to the development of life-saving drugs.
This event is now passed. To read the blog post about it head here https://www.camraredisease.org/pint-of-rare-science/
Can we turn back the clock on rare premature ageing diseases?
Rare genetic premature ageing syndromes called progeria trigger the appearance of ageing signs in early childhood causing many changes to the body over time, including heart disease, bone changes, hair loss, joint and skin changes, and early death around 14 years old. Unfortunately, there is no current cure and therapies just improve the symptoms. Hear how Delphine’s team is tackling this and suggesting new treatments and how the lab’s work could also open up new perspectives into improving normal age-related pathologies.
Chronic pain is a debilitating condition that affects 14 million people in England alone. But scientists think the have come a step closer to understanding it – by studying a rare group of people with congenital insensitivity to pain, who feel no pain at all. Cambridge University researchers have identified a faulty gene that seems to switch pain off in some people and it is hoped the discovery could lead to new treatments for those who live with pain every day.
As part of the Creative Reactions project, these artists will be presenting their artwork inspired by the research of speakers in this talk series. The artwork will also be on display at our Creative Reactions Exhibition at St Barnabas Church, 24 – 25 May.
Cambridge Rare Disease Network brings a Rare Disease Innovation and Collaboration panel to Cambridge Biotech Week in Partnership with Global Innovation
Cambridge Rare Disease Network (CRDN) is hosting a Rare Disease panel as part of the new Cambridge Biotech Week Health Horizons Future Healthcare Forum.
Health Horizons Future Healthcare Forum is a high calibre, two-day conference focusing on the future of the healthcare industry. Created by the Global Innovation Forum.
CO-CREATING THE HEALTHCARE OF TOMORROW
Over the previous 20 years, we have seen a significant change in the healthcare industry. Small molecules have been pushed out of the blockbuster limelight by biologics. Decreasing sequencing cost has allowed more targeted R&D and the use of increasingly interdisciplinary data to influence prognosis has become standard practice. All of this points to a healthcare future with an increasingly personalized approach. But how will this future come together?
RARE DISEASE: CROSS-SECTOR COLLABORATION AND DIVERGENT THINKING IN DEVELOPING THERAPIES. Are we on the cusp of a rare disease treatment revolution?
Delegates will hear from a range of experts in this field, each with a unique perspective on the future of healthcare, treatments and cures for those affected by rare diseases.
This CRDN session brings together stakeholders from research, industry, healthcare and patient groups who are at the heart of innovative breakthroughs in therapies and technology to share their expertise in co-creating healthcare today, and for the future. Hear a mix of inspirational and thought-provoking short talks and take part in a moderated discussion session.
* Prof Tim Cox – Prof of Medicine Emeritus & Director of Research, University of Cambridge & CRDN trustee. A clinician with a passion for solving the long and tortured business of drug discovery, development and approval for rare diseases
* Dr Tim Guilliams – Co-founder & CEO, Healx Ltd, and Founder & trustee of CRDN. Accelerating treatments for rare diseases through AI
* Patricia Durao – Lewi – Co-founder, Cure & Action for Tay-Sachs (CATS) Foundation. Partnering in gene therapy clinical trial as a treatment for Tay- Sachs disease, Niemann-Pick Type C (NPC), and inherited Cerebellar Ataxias
* Dr Rick Thompson – CEO, Findacure. Developing drug repurposing social impact bonds for rare diseases
Tickets purchased via CRDN for this rare disease session do not allow access to the main Health Horizons conference. For access to the Corn Exchange for the full Health Horizons experience and to access our rare disease session as part of this use 25% discount code HH25. Click here for the full agenda and here to discover more about Health Horizons.
One in 17 people will develop a rare disease at some point in their lives – that’s 3.5 million in the UK alone and 350 million globally. Most of these diseases manifest in early childhood and many are life-limiting conditions with 95% of 7000-8000 identified rare disease having no approved treatment.
The challenges are real, but not insurmountable. We believe that innovation is key to driving development and collaboration between companies and key rare disease players, particularly expert patients, will make that happen.
Decades of research into gene and cell therapies are now paying dividends with recent breakthroughs for conditions such as spinal muscular atrophy (SMA), thalassemia, and rare eye diseases. More than 1,000 ongoing gene and cell therapy studies are in development and we hope to see some key regulatory approvals in 2019. Approaches employing artificial intelligence are also advancing and accelerating therapies for rare diseases with drug repurposing in the spotlight as a faster, cheaper and more efficient way to treat conditions which have largely been forgotten. This CRDN session brings together stakeholders from research, industry, healthcare and patient groups who are at the heart of these innovative breakthroughs to share their expertise in co-creating healthcare today, and for the future.
What are my transport/parking options for getting to and from the event?
The McCrum Lecture theatre is a Corpus Christi College gem; tucked away on Bene’t’ Street and just hidden behind the Eagle Pub, just a 2 minute walk from The Corn Exchange where the Health Horizons main event takes place. The nearest parking is at the Grand Arcade or Park St multi storey. Disabled badge holders can use any metered or disabled spaces on the surrounding streets. There are a few disabled spaces on Peashill opposite the tourist information office which is a minute walk away.
How can I contact the organiser with any questions?
CRDN RAREsummit19 is a 1 day summit focusing on patient centricity in rare diseases – mastery, opportunities and trends in the drug development process, healthcare and assistive technologies. View the full RAREsummit webpages here
Join 250 attendees, 26 speakers and 32 exhibitors to discuss which are the most pertinent challenges and innovative solutions in ensuring patients are valued and essential partners. A highlight of the rare disease calendar – can you afford to miss out?
CRDN RAREsummit19: What if we could revolutionise the rare disease landscape?
What if we were able to share information with the power to revolutionise the current rare disease landscape? What if we could provide solutions to patients now, answering their pressing questions about their disease, care, and treatment? What if we could ensure that patients and advocates played an equal and vital role in the development of drugs, assistive technologies, and healthcare?
Rare disease patients and their families are tired of waiting for answers and the slow pace of change. They want to be involved and share their lived experiences to help companies, researchers and healthcare professionals find answers and solutions. Hear from, learn from and engage in cross-sector activities with a range of stakeholders: patients; patient advocacy groups; researchers; health care professionals and companies who are leading the way in pioneering partnerships to accelerate change.
Join us at the Wellcome Genome Campus: a hub of life-changing science. We think it’s the perfect venue to make progress for rare diseases.
THE HACKATHON CHALLENGE – Priorities for the UK Rare Disease Strategy
The day will culminate in a ‘hackathon’ activity. So what’s a hackathon? In a nutshell, cross-sector delegate teams will work together to explore what matters to you and what matters the most. “We need a national debate on rare diseases to offer the best possible care”.
Cambridge Rare Disease Network welcomes Baroness Nicola Blackwood to deliver a speech to usher in our cross-sector hackathon “What matters to you. What matters most?” The minister, Parliamentary Under Secretary of State at the Department of Health and Social Care, recently said “I want to lead a national conversation on rare diseases, and how we care better for people. We want to talk to staff, patients, experts and researchers…to capture views on the big strategic issues that affect you.”
At CRDN RAREsummit19’s hackathon we’ll be giving delegates the opportunity, in cross-sector teams, to ‘identify common themes and proposals to help develop the vision for a post-2020 rare disease framework’. Your thoughts and priorities will be shared with the Minister as a report following. Will you be there to have your say?
Selected teams will have the opportunity to pitch their idea on stage. We aim for delegates to be inspired to develop this cross-sector approach with patients as equal and vital partners.
NETWORKING and COLLABORATION – Building your rare disease community
During an extended lunch, delegates enjoy networking and browsing charity, healthcare and company stands and a patient journey poster exhibition. For our summit 2017, 52 patient journey posters were created by various rare disease patient groups and individuals. Some of these will be displayed along with a new collection.
The day will close with a complimentary drinks and canapes reception where delegates can enjoy networking, reflecting on their day and developing partnerships for the future.
Build your network with 300 biotechnology, pharma and startup leaders, patients and patient group CEOs, healthcare professionals, researchers and students assembling to address key issues to enabling and promoting collaborative working to improve the rare disease patient journey
Hear from, and put questions to, key opinion leaders through Q+A and event technology
Take part in cross-sector activities
Hold crucial discussions with potential partners from local and global arenas
Expand your knowledge and keep abreast of opportunities and trends in the drug development process, healthcare innovation and disruptive technologies in the rapidly evolving rare disease landscape
Join us at the Wellcome Genome Campus; a hub of life-changing science, we think it’s the perfect venue to make progress for rare disease
We are proud of our forward-thinking and unique events which provide a forum for all stakeholders to learn, interact and collaborate, but don’t just take our word for it…
I attend several rare disease meetings every year and the summit had the most interesting programme that I’ve seen in a long time. The key for me was the authenticity and passion that we got from the speakers, both from the patients and the scientists. Anna M, NFP scientific officer, CRDN Summit 17
A highlight of the Orphan calendar. Up there with Bio. Richard I, industry professional, CRDN RAREsummit 17
Cambridge Rare Disease Network delivered a lot on a tight budget, which was particularly impressive. It was fantastic that new working collaborations were formed from the meeting. Communique Awards for excellence in healthcare communications 2018 judging panel – Finalist
CRDN RAREsummit19 TICKETS
If you have attended our events previously, you’ll notice that we have changed our pricing structure for CRDN RAREsummit19. Our aim is to provide more equitable and accessible options for all. CRDN is a registered charity which relies on revenue from selected events and sponsorship of these events to be able to provide attendees with a high-quality experience. Please respect the ‘honesty box’ ethos of this system when selecting your ticket band. If you’re unsure which ticket to choose, perhaps you have different roles, then kindly contact email@example.com for guidance. Thanks for your support
National Cancer Research Institute: Dragons Den 2020
Programme stream(s): Early detection / diagnosis and prognosis , Living with and beyond cancer , Prevention , Treatment
Dragon’s Den Programme session type(s): NCRI session
Chair: Emma Kinloch, NCRI Consumer Forum Lead
The Dragons’ Den session is an opportunity for researchers to meet with a group of patients and carers, experienced with cancer research. They will offer their advice and input to any aspect of your research, in an informal setting.
This session is led by members of the NCRI Consumer Forum – the friendliest and most helpful Dragons you will ever meet.
To host a table, please fill-in the application form before Monday 23 September:
Form for completion https://www.ncri.org.uk/dragons-den/
For more information please contact our Research Involvement Officer, Liane Hazell at firstname.lastname@example.org
The Dragons’ den offers practical on-the-spot help and advice for researchers seeking patients and carers’ input to their study proposal, at any stage of the research process. The Dragons will provide advice on the design, approval, funding and delivery of research studies, as well as adding quality to the research itself, and disseminating the results.
This session will:
1. Offer researchers input from patients and carers on their study proposal, or their views on ideas being formulated.
2. Allow researchers to gain experience in presenting their research idea to a lay audience and facilitate discussions about their research.
3. Offer researchers the opportunity to engage and involve patients and carers more effectively and productively in future, and offer patients and carers the opportunity to support research more effectively and productively.
Exploring how genomic research translates into clinical care and informs our understanding of the biology of rare disease
We are pleased to announce the 14th in our series of meetings on rare disease, which will present an exciting blend of genomic science and clinical medicine. This conference will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.
The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting, we also examine the opportunities and challenges for clinical practice.
This year’s meeting will focus on large-scale whole genome sequencing studies that impact on our understanding of rare diseases. There will also be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions exploring regulatory regions beyond the coding regions of the genome, and explore the new therapeutic approaches to rare diseases.
This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research and clinical scientists, bioinformaticians and technology developers interested in understanding the impact of recent advances in genomics and technology on the care of patients with rare diseases.
Rare Disease UK is hosting the UK’s first ever film festival fully dedicated to raising awareness of rare diseases. We invited charities, companies, independent film-makers, students and individuals to submit short films around the theme of rare disease. Our judging panel will choose the most innovative, inspiring and powerful films and announce the winners at this glamorous event in Regent Street Cinema in Central London.
What’s happening at Rare Film Festival?
This is an exclusive event in celebration of Rare Disease 2020. We have invited representatives of all major stakeholders of rare disease community. You can expect a lot of charities, rare disease patients and patient advocates, researchers, healthcare professionals, film-making professionals, pharma and biotech companies, healthcare communication agencies, film production professionals and individual supporters. The doors will open at 18:30, giving everyone plenty of time to network and enjoy a welcome drink and some canapes. The Awards Ceremony will start at 19:30.
Who is taking part?
– Aspiring Filmmakers – anyone interested in film and film production – students, film amateurs, independent professionals.
– Patient Organisations – charities supporting the cause of a rare condition(s).
– Voluntary Organisations – non registered, small patient groups supporting the cause of a rare condition(s).
– Digital and PR agencies that have or wish to create a film in collaboration with a rare disease charity.
– Companies that have, or wish to create a film in collaboration with a rare disease charity.
Did you know?
Rare Disease Day is a global event that aims to raise awareness of rare diseases. It is officially held on the last day of February each year, and recognised in over 90 countries worldwide.
Individually rare diseases are uncommon but collectively they affect many people. In the UK it is estimated that 3.5 million people will be affected by a rare disease at some point in their lives, that is equivalent to 1 in 17.
There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature each week.
Unfortunately, the reality of rare disease patients is challenging, many experience delays in getting an accurate diagnosis, receive poorly coordinated care and face difficulties accessing appropriate information.
If you wish to learn more about the Rare Disease Day and read some of the patient stories, visit our dedicated website by clicking here.
The unusual suspects: Rare diseases in everyday medicine
M4RD and the RSM will bring together a faculty of top speakers to explore how rare diseases are relevant in everyday clinical medicine.
With over 7000 rare diseases, medical education in this area presents a major challenge. A hand-full of rare conditions may be included in specialty-specific education however broader coverage of ‘rare disease’ is minimal. This is despite 3.5 million people in the UK living with a rare disease – making rare diseases collectively common. This is the only meeting of its kind specifically targeting medical professionals to teach them about the broad concepts of rare disease and offering pragmatic advice about how to diagnose and manage rare diseases in everyday medicine.
Who’s speaking at ‘The unusual suspects: Rare diseases in everyday medicine?’
At this unique conference, Dr Richard Scott, Clinical Lead for Rare Disease at Genomics England, will talk you through the application of new genetic technology to facilitate diagnosis and the use of genomics in everyday medicine.
Ms Sarah Lippett, author of “A Puff Of Smoke: Growing up with an undiagnosed illness”, will share her experience as a patient living with a rare disease and the path to diagnosis, and renowned clinicians will give delegates an understanding of the role of the generalist doctor in rare diseases.
Rare diseases in primary care
Genomics in mainstream medicine
A Puff of Smoke – growing up with an undiagnosed rare condition
Drug repurposing in rare diseases
The role of advocates in supporting patients and doctors
“This conference will empower me to consider rare diseases in the future when making a diagnosis, and not shy away from them because of a lack of understanding or knowledge of the specific disease.”
– Feedback from 2019 Delegate
“It was a fantastic day and I couldn’t fault any of the speakers. It’s rare that in a one day training course all content is engaging yet this event definitely managed it!” – Feedback from 2019 Delegate
The BPSU in collaboration with Medics 4 Rares Diseases, Cambridge Rare Disease Network, Findacure and Rare Revolution Magazine will be hosting a half-day symposium at RCPCH Conference and exhibition 2020. This is session will focus on rare disease – an area of medicine where innovation is making a real-life difference to the patient population and their families.
AAC Liverpool King’s Dock, Port of Liverpool Kings Dock Street Liverpool L3 4FP United Kingdom
How to book for the RCPCH conference
This event takes place on day 2 of RCPCH Conference and exhibition 2020, which takes place from 28 to 30 April. You can book your place at Conference, and join this event.
This session will focus on rare disease – an area of medicine where innovation is making a real-life difference to the patient population and their families. It is targeted at all medical professionals because, thanks to innovation, rare disease is no longer just the domain of the super-specialist. Attendees will get a broad overview from how rare diseases are relevant to everyday clinical practice to how artificial intelligence is improving the diagnostic pathways.
It will be a chance to engage with patients, advocates and medical professionals who all work tirelessly to improve the outcomes for children living with a rare disease in the UK.
Programme (subject to change)
15:00 The health impact of rare diseases and the BPSU – Dr Shamez Ladhani, BPSU Chair
15:15 Gaucher’s and me: growing up with a rare disease – Maddie Collin, young person diagnosed with Type 3 Gaucher’s
15:30 How advocacy changes clinical practice: the AKU story – Dr Nick Sireau & Professor Lakshminarayan Ranganath, AKU Society
15:50 Lupus: understanding how children with a rare multi-system disease access care – Dr Hanna Lythgoe, Alder Hey Children’s Hospital
16:05 Interim findings of the first national surveillance of Fetal Alcohol Syndrome – Dr Kathryn Johnson, Leeds General Infirmary
16:20 Tea break
16:45 Behçet’s syndrome: delivering a multi-disciplinary service – Dr Clare Pain, Alder Hey Children’s Hospital
17:05 Whole genome sequence analysis in PICU and NICU: a paradigm shift in clinical care – Professor Lucy Raymond, University of Cambridge
17:20 Doctors as rare disease teachers – Dr Lucy McKay, Medics 4 Rare Diseases
17:35 Q & A Richard Lynn, BPSU Scientific Coordinator
Findacure: ‘Drug Repurposing for Rare Diseases’ conference 2020
Findacure is a UK charity building the rare disease community to drive research and develop treatments. They exist to transform the world’s understanding of rare diseases and the devastating impact they have on people’s lives.
Findacure’s Drug Repurposing for Rare Diseases Conference, now in its seventh year, showcases excellence in the development of repurposed drugs for rare disease patients.
Held annually in recognition of Rare Disease Day, the conference shares groundbreaking drug repurposing projects, highlights the potential for patient group-led innovation, and emphasises repurposing as a valid business model for orphan drug development.
Featuring speakers from across the rare disease spectrum, with patient representatives sharing an equal platform with professors, pharmaceutical executives, and regulatory experts – Drug Repurposing for Rare Diseases promises a day of inclusivity where everyone can learn something new.
We pride ourselves on our friendly, engaged and collaborative atmosphere – if you care about rare, this is the event for you!
At Drug Repurposing for Rare Diseases 2020 you can expect?
We are building a diverse and inclusive rare disease community that works together to solve the common issues facing the world’s rare disease patients.
Through attending our conference, you will find an audience encompassing the pharmaceutical industry, patient groups, clinicians, charities, academic researchers, biotech companies, consultancies, and policymakers. All are brought together to highlight progress in the field of rare diseases and spark new collaborations.
A programme of talks delivered by experts from across the rare disease community.
Examples of projects that are breaking new ground in the field of drug repurposing.
A positive and collaborative atmosphere, with a focus on putting the patient at the heart of research.
A quick-fire lightning talk round, allowing delegates to propose and share their own stories.
Dedicated time to network with an audience of over 100 delegates who share an interest in the rare disease repurposing space.
Your chance to pose questions to our panel of speakers, and instigate discussion on some of the most pressing topics in the field of rare disease repurposing.
For more information about Findacure’s Drug Repurposing Conference
We pride ourselves on producing a diverse programme that delivers something for everyone, and ensures our audience has every opportunity to consider drug repurposing from different perspectives. With talks from industry, academia, patient groups, and of course, rare disease patients themselves, Drug Repurposing for Rare Diseases welcomes everyone with a place in the rare disease community.
The 2020 programme is no exception. This year, we are thrilled to highlight a new drug repurposing trial for stone-man syndrome (FOP) run out of Oxford University, delve into a multi-disease clinical trial, and hear the thoughts of NICE on the challenges and opportunities of reimbursement for repurposed drugs.
We also have the return of our annual lightning talk session, giving delegates the chance to take the stage and share their work with our community.
Hosted at the United Nations on the margins of the 43rd Session of the Human Rights Council, the exhibit is made possible thanks to the invaluable support of the Permanent Mission of Cyprus and the Permanent Mission of the Federative Republic of Brazil.
Exposition opens 25 February 2020 at 12.30
United Nations Office at Geneva (UNOG)
Palais des Nations, Building E, Main Entrance
H.E. Mr. Nikos Christodoulides, Minister of Foreign Affairs of Cyprus
H.E Mrs. Damares Alves, Minister of Women, Family and Human Rights of Brazil .
Mrs. Katia Kyriacou, President, Pancyprian Association of Rare Genetic Diseases “Unique Smiles”
Mrs. Rachel Yang, Member of the Council of Rare Diseases International
Mr. Aldo Soligno, photographer of the Rare Lives Photo Project
Ms. Anastasia Semaan, Youth Ambassador of “Unique Smiles” and Member of European Patient Forum Youth Group
After the opening ceremony, Brazilian finger food and Cypriot wine will be served
The expo is open to the public on 25February until 6 March 2020. It showcases two photographic projects, supported by two patient associations in Italy and Cyprus.
UNLIMITED POSSIBILITIES is a photographic project that portrays the resilience, dreams and aspirations of people living with a rare disease.
The project is a collaboration between world-class photojournalist Petros Petrides and Unique Smiles a Cyprian civil society organisation that represents patients and families affected by 167 rare genetic disorders.
RARE LIVES is a 5-year photographic journey into the world of rare diseases involving 70 families and crossing 7 European countries. The collection goes beyond the data and socio-health services to shed light on the bravery, strength and adaptability of those living with a rare pathology, whatever their context.
The initiative is the outcome of a collaboration with award-winning photographer Aldo Soligno; his agency, ECHO Photojournalism; and UNIAMO-Rare Diseases Italy, the Italian Federation of Rare Disease patient associations.
As part of Rare Disease Day 2020, we welcome the rare disease community to an event celebrating the human face of rare diseases and portraying the common experience of patients and families living with a disease.
Please note that the event is currently fully booked. If you wish to attend this event, please join the waiting list by emailing email@example.com.
Rare Disease Day 2020 at Royal Holloway
Rare Disease Day is an international day celebrated in over 100 countries to raise awareness amongst the general public, the clinical community, and decision-makers about rare diseases and their impact on people affected and their families. At Royal Holloway we have celebrated the day since 2011 by inviting sixth form, college and secondary school students, and members of the public to attend lectures, an exhibition and to get hands-on experience in our labs. 2020 will be our 10th year of celebrating this special day – we hope you’ll be able to join us!
If you would like to attend Rare Disease Day please register and book a place. If you have any specific questions, or are a local network and wish to get involved, please email organiser Professor Rafael.Yanez@royalholloway.ac.uk. Visit our Rare Disease Day webpage for more information.
You can also invite your Assembly Member (AM), Member of Parliament (MP) or Member of Scottish Parliament (MSP) to attend. Telling your representative about issues that affect you can be a powerful way to make change and influence decisions about rare diseases. We have put together a letter template to help you write to your MP, AM or MSP ahead of the receptions to raise awareness about rare diseases and tell them about how they can support people with rare conditions in parliament.
Same But Different CIC invites you to coffee and share
Join us for coffee and cake in a relaxed environment for those affected by rare diseases, to share information and support one another
Coffee & Share
If you or someone you care for is affected by a rare disease, please come along to meet up with others, share information, support one another or simply to have a coffee & cake. We will also be joined by a member of ASNEW Advocacy.
If you have any questions, please email firstname.lastname@example.org or call 01352 757007. We look forward to seeing you there
For more info about Same But Different CIC https://www.samebutdifferentcic.org.uk/about
Celebrate International Rare Disease Day with families and friends at CRDN’s RARE-i-tea party!
Cambridge Rare Disease Network (CRDN) invite you to join us for tea and cakes in celebration of this year’s extra rare Rare Disease Day which falls in a leap year on 29th Feb 2020.
We’re delighted to be holding this friends and families event at the wonderful premises of Cambridge charity, Rowan Humberstone, which supports adults with disabilities through art and creation activities.
Everyone! This is a public event, open to all – children, families, those affected by rare disease and those working with them, students, company representatives, scientists, healthcare professionals, friends of CRDN. All welcome.
There will be tea, coffee, soft drinks and cakes for sale.
Children can help us create a Rare Disease Day handprint collage in the art room or have their face painted!
There’ll be information stands and some fun science games
Take time out to watch some rare disease inspired short films from our RAREfest18 event on a showreel
GETTING THERE & PARKING
Rowan Humberstone is set on a residential street sandwiched between Elizabeth Way Bridge and Chesterton Road. There is a residents parking scheme in the street but blue badge parking is fine and there is one disabled parking space outside the venue. At either end of Humberstone Rd there are metered parking places (metered until 5pm 50p per 30 mins).
If cycling or walking from town, Rowan is just over the Cutter Ferry Bridge from Midsummer Common and there are cycle racks outside. There are buses every 10 mins along Chesterton Road, a short walk away. See the map below to get your bearings.
HOW MUCH DOES IT COST?
Entrance is free although we encourage attendees to make an appropriate donation to help cover our venue and staffing costs. Refreshments will be on sale so please bring cash.
For more info on Rare Disease day see the official website https://www.rarediseaseday.org/
WHAT IS RARE DISEASE DAY?
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
WHY MARK RARE DISEASE DAY?
Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
WHO GETS INVOLVED IN RARE DISEASE DAY?
Rare Disease Day events are down to hundreds of patient organisations all over the world who work on a local and national level to raise awareness for the rare disease community in their countries. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. We especially thank our official Rare Disease Day partners, the National Alliances. These are umbrella organisations who group together several rare disease organisations in a given country or region. Click on a logo of one of the National Alliances to go to their website.
WHERE IS RARE DISEASE DAY CELEBRATED?
The campaign started as a European event and has progressively become a world phenomenon, with the USA joining in 2009 and participation in over 100 countries all over the world in 2019. It’s hoped even more will join in 2020. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.
WHEN DOES RARE DISEASE DAY TAKE PLACE?
The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days.
At rarediseaseday.org you can find information about the thousands of events happening around the world on the last day of February. If you are planning an event, register your event details on the Post your Event page to get your event listed on the site!
Endocrine cancer? A fascinating talk, something different for a change. Dr Ruth Casey will tell us all about “The study of sporadic and hereditary endocrine neoplasia: a path less travelled?”
This is an event jointly organised by OncSoc and Students 4 Rare Diseases, Cambridge. Not to be missed if you are interested in endocrinology, rare diseases, or cancer!
Dr Casey is a Consultant Endocrinologist at CUHNHSFT and holds a post which not only encompasses management of endocrine cancer, but includes protected time to undertake independent and collaborative research. Ongoing and future projects include advancing diagnosis and management of SDH-deficient GIST and paragangliomas and identifying potential therapeutic targets in these tumours using a multi omics approach.
The Desmoid Fibromatosis Patient Conference promises to be an informative & educational day for all.
This event, the very first, for U.K based Desmoid type fibromatosis patients, promises to be an informative and educational day for all.
The day will offer patients a rare oppurtunity to meet and network with fellow patients & carers, while also having the oppurtunity to learn and educate themselves via some of the top names in Desmoid Tumour’s.
For many this will be the first time meeting a fellow patient face to face, something we feel is very important in breaking the isolation of this rare disease. Due the packed agenda planned we will have an hour dedicated to patient networking at the end of the day. This will likely fill the 4 – 5pm slot.
Our main speaker on the day will be Dr Palma Dileo, based at UCLH London. Dr Dileo will be presenting a past/present/future of desmoid’s. This promises to be an informative and enlightening presentation due to the sheer lack of knowledge among patients & carers at present, caused mainly by a lack of information available to them!
Dr Dileo shows a clear passion for her work with desmoid patients and attends many events & conferences each year to keep up to date and informed on what’s happening across the world for Desmoid Fibromatosis patients. She also works closely with the Desmoid Tumour Research Foundation among other organisations.
Also speaking on the day will be oncology physiotherapist Lucy Dean from The Royal Marsden, London. Lucy works closely with the fibromatosis clinic set up at the Royal Marsden earlier this year. She will be sharing information about the new clinic and explaing some of what goes on there.
Other speakers on the day will also include
A surgeon, pain management consultant, researcher and macmillan benifits advisor.
We will release full deatils of these and the agenda nearer the time.
There will also be information stands displaying information and offering advice during breaks.
Sarcoma UK & Genetic Alliance UK will be among these stands. We also hope to have a prosthetic stand too. Again more details of stands will be available as we confirm them.
This day will mark a monumental moment for DF patients here in the U.K, who, until now, have felt very alone and isolated with this extremely rare & incurable diagnosis of a Desmoid Tumour. Our hope is that this will be the first of many events aimed at supporting patients and carers. Enabling them to learn how to live with and beyond their diagnosis of Desmoid type Fibromatosis tumour.
Patients can follow updates via our facebook support group Desmoid United UK.
To facilitate patient and supporter input into our strategy and research focus, we are holding a focus day in Manchester. Taking into account the patient view allows for better trials, clearer direction and in turn facilitates enhanced patient engagement and outcomes.
Spaces are limited. Please email email@example.com if you are interested in attending.
Genetic Alliance UK and NHS Research Scotland – Research and Rare Conditions Conference
Genetic Alliance UK, with the support of NHS Research Scotland, are delighted to announce that registration for the Research and Rare Conditions Conference is now open.
The conference, to be held at the Royal College of Physicians in Edinburgh on Monday 9 March 2020, will be an opportunity for those interested in research and rare conditions to hear from a range of expert speakers and participate in facilitated discussions to inform the future of rare disease research policy.
We are delighted that Professor David Crossman, Chief Scientist for Health in Scotland, will attend to provide the keynote address.
There will four themed sessions on the following topics:
– Registries and the value of data collection
– Reducing the diagnostic odyssey
– Involving patients in clinical research
– Innovation and treatment
In addition, we are pleased offer ‘Soapbox Sessions’ to attendees – these are three minute speaking slots for those wishing to share their experiences of research or their priorities for research policy. If you would be interested in providing a soapbox session, please contact firstname.lastname@example.org
Gastrointestinal stroma tumours are diverse in many aspects. Dr Olivier Giger and team, Addenbrooke’s Hospital, perform a morphological, molecular and metabolic dissection of these tumours and tell the award winning story of interaction between a patient group, clinicians and scientists here in Cambridge.
The Pharmacogenetics & Stratified Medicine Network is pleased to announce our 7th Annual Open Meeting.
Once again we have some excellent speakers with Sir John Bell and Dame Sue Hill providing keynote addresses. Charles Swanton will highlight how precision medicine in cancer is moving forward and this year there will be sessions on the latest advances in gene based therapies and rare diseases. Early career researchers will present their cutting edge work, and a patient will give an insight of their experience of genomic medicine.
The meeting attracts leading representatives from academia, healthcare and industry sectors, regulators, and patients, so is an ideal opportunity to forge multidisciplinary network partnerships.
Each year the meeting is a sell-out and all proceeds from the event go to funding our endeavours of promoting the use of personalised medicine in the clinic to provide patients with improved healthcare.
When you are ready to book, please click the appropriate “Book Event” button below.
If you represent an educational institution (e.g. a University) or a clinical organisation (e.g. an NHS site) please select “01 Non-commercial partners”. If you represent a company or business, please select “02 Commercial”.
If you wish to book an exhibition stand at the Open Meeting, this can also be done below. Please contact Christine McNamee for more information at email@example.com.
For more information on the UK PGx Network, please click the link below to visit our website.
Learn more about current approaches to diagnosis, treatment and management of IPF from the perspective of patients, their carers and clinicians, as well as gaining an insight into the psychological and emotional wellbeing of those living with IPF. We’ll also explore the cutting edge research into improving outcomes and palliation, as we consider areas of inquiry likely to deliver step changes in treatments.
What will you learn at ‘Living with pulmonary fibrosis’?
By attending this meeting, you will have the opportunity to:
Understand the most effective approaches to the diagnosis of IPF and the contribution of high-resolution imaging
Know about the pharmacology and use of current anti-fibrotic drugs and the underlying biology that may lead to new approaches to treatments
Understand the development of biomarkers, breath markers and other approaches to determining who is likely to respond to treatments
Know from patients’ perspectives about the importance of palliative options and support for symptoms including breathlessness and mental health concerns
Consider inequalities in access to management options, for example, care by specialist nurses
Consider likely avenues for ”step changes” in treating IPF
About Medicine and Me
Medicine and Me meetings aim to provide an outline of current best practice and future updates of important conditions and to give direct voice to patients and their carers and enable them to discuss their concerns and reflections on the impact of diagnosis, investigation and management. Physicians and surgeons and indeed all healthcare professionals continue to learn from and be inspired to greater efforts to improve care by hearing directly from patients.
Early Bird pricing available until 13 February 2020. To book click here
RSM Retired Fellow
Registration, tea and coffee
Welcome and introduction
Dr Fiona Moss, Dean, Royal Society of Medicine
Introduction to the day
Steve Jones, Chair of Trustees, Action for Pulmonary Fibrosis
Living with Idiopathic Pulmonary Fibrosis – patients’ perspectives
Diagnostic journeys – Howard Almond, Exeter Pulmonary Fibrosis Group and APF trustee
Anti-fibrotic drugs and daily life – Ron Fish, Papworth Hospital PF Support Group
Idiopathic Pulmonary Fibrosis: what is it, who gets it and why?
Dr Simon Hart, PhD FRCPE, Reader in Respiratory Medicine, Hull York Medical School
Speeding up the diagnostic journey: Step changes in diagnosis
Dr Simon Walsh MD FRCR Consultant Radiologist, National Heart and Lung Institute, Imperial College London
Dr Simon Hart, PhD FRCPE, Reader in Respiratory Medicine, Hull York Medical School
Patients, Dr Simon Hart and Dr Simon Walsh
Current and future treatments for Idiopathic Pulmonary Fibrosis
Dr Helen Parfrey PhD, FRCP Consultant Physician, Cambridge Interstitial Lung Diseases Unit
Discussion with Dr Helen Parfrey
Life with Pulmonary fibrosis: What helps?
Ms Maxine Flewett, Papworth Hospital Pulmonary Fibrosis Support Group, carer
Dr Melissa Wickremasinghe, PhD MRCP, Consultant Respiratory Physician
Dr Anne-Marie Russell PhD RN, Senior Clinical Research Fellow, Honorary Idiopathic Pulmonary Fibrosis Nurse Consultant, Imperial College Healthcare NHS Trust
Ms Maxine Flewett, Dr Anne-Marie Russell, Dr Melissa Wickremasinghe
Panel discussion: Looking forwards together: Step changes in treatments, what are the priorities?
Dr Helen Parfrey, Dr Simon Hart, Dr Melissa Wickremasinghe, Dr Helen Parfrey, Dr Anne-Marie Russell, patients
Close of meeting, tea and coffee
Join in the conversation online Follow us on Twitter: @RoySocMed
We would like to thank our sponsor(s):
Galecto Biotech AB
Please note that none of the companies listed have had any influence or involvement over the agenda, content or organisation of this meeting.
BOMBARDIER BLOOD is a powerful documentary about Colorado-based Mountaineer Chris Bombardier, who has never let haemophilia stop him from climbing some of the world’s tallest mountains. In 2017, Chris partnered with haemophiliac filmmaker Patrick James Lynch to film his journey through Nepal to summit the world’s tallest peak, Mount Everest.
About the film:
Mountaineer Chris Bombardier has never let haemophilia stop him from climbing some of the world’s tallest mountains. In 2017, Chris partnered with haemophiliac filmmaker Patrick James Lynch to film his journey through Nepal to summit the world’s tallest peak, Mount Everest.
On this journey, Chris receives a “wake-up call” about haemophilia in developing countries, where not only is care limited but often hours away. With breathtaking visuals and powerful insight into bleeding disorder communities overseas, BOMBARDIER BLOOD is an inspiring and heart-warming adventure film that highlights both what is and is not possible when living with this rare disease, depending on a patient’s access to medicine and care.
Join us for a special screening of this powerful film.
Naidex is Europe’s most established event dedicated to the independent living and healthcare industries. Attracting over 18,000 visitors from across the globe, the show brings together trade professionals, healthcare professionals and members of the public into the halls of Birmingham’s NEC for two days of opportunities, innovation, discovery and education.
As technology continues to evolve and society advances towards inclusion and accessibility, Naidex sets itself as the point of reference for the future trends set to take over the independent living and healthcare industries.
If you are working in the independent living industry, a professional from the health and care sector or a person with one or more disabilities, Naidex is a must-attend!
Discover the latest innovations, shop 400 suppliers, listen in to 300 expert-led seminars, participate in interactive features and interact with like-minded individuals in the hub of the independent living and healthcare world.
So whatever the purpose of your visit, whether you are looking to adapt your home to make it more accessible, find a job, get CPD points, learn the latest techniques, source new leads, introduce your latest product or service, you will find what you are looking for at Naidex. Register now for your free ticket by clicking here.
See whats on here https://www.naidex.co.uk/features/
Orphan Drugs and Rare Diseases 2020 Europe by Paradigm Events
Paradigm Global Events is again proud to present our Orphan Drugs and Rare Diseases 2020 Europe. It’s the 12th in the series of our Flagship tri-annual Orphan Drugs and Rare Diseases event, this congress will provide you with a comprehensive overview of the critical issues shaping the future of Orphan Drugs.
Orphan Drugs and Rare Diseases 2020 Europe
The conference will provide a unique platform for the convergence of stakeholders in the orphan drugs industry to discuss and network with top tier government, pharmaceuticals, biotechs, non-profit organisations, orphan drugs developers, research organizations as well as patient groups and advocates. We are putting together an agenda that address the driving macroeconomic factors, policies, and issues that will steer the development of orphan drugs globally including access, commercialisation, collaborations, policies, reimbursement, pricing and more.
“A comprehensive overview of the critical issues shaping the future of Orphan Drugs”
The Orphan Drugs And Rare Diseases Europe will cover areas like unique platform for an intimate & interactive knowledge sharing and convergence of top tier government, pharmaceuticals, biopharmaceuticals, hospitals, non-profit organisations, orphan drugs developers as well as regional and local manufacturers to discuss the driving macroeconomic factors, policies and issues that will steer the development of orphan drugs globally.
A screening of winning films from Rare Disease UK’s Film Festival 2020, the first such event dedicated to raising awareness of rare diseases
A screening of winning films from the Rare Disease UK Film Festival 2020. This screening will feature some of the winning films from the UK’s first ever film festival dedicated to raising awareness of rare diseases. The winning films were chosen by a judging panel across 6 categories including most innovative, powerful and inspiring film. If you are part of a charity or patient organisation, please feel free to use this as a networking opportunity for your membership in Wales.This event is free but please register.
There will also be an opportunity to join us for coffee and cake before the film screening as part of our series of public Genomic Cafe events being held across Wales. The Genomics Café – a relaxed, informal way to learn about new developments in the field of genomics and medicine – will be between 5 – 6.30pm at the same venue.
For further information, email firstname.lastname@example.org or call 02920 746940
This event is for participants on Findacure’s 2019 or 2020-21 Patient Group Mentoring Programme only.
To celebrate the achievements of our 2019 mentoring cohort, and kick-off the 2020-21 round, we are inviting all mentees and mentors to join us for a celebratory event at the Royal Institute, London, on Wednesday 18th March
The event is a great opportunity for the 2019 cohort to look back at the year and celebrate their achievements, and for the 2020-21 cohort to meet their mentee/mentor in-person, learn about the programme, get support setting SMART objectives, and meet others involved in the scheme. The day will also include a training session, which will be relevant to all attendees.
For the 2020-21 cohort, we hope to let all applicants know who they have been paired with by Friday 13th March. As we endeavour to match everyone who applies, we encourage all applicants to sign up for the event, ahead of the formal pairing process.
Please note: certain parts of the event are relevant only for the 2020-21 cohort. If you are a participant on the 2020-21 programme, please register for the 10:00 – 17:00 session. If you are a participant on the 2019 programme only, please register for the 12:00 – 17:00 session.
10:00 – 10:30
10:30 – 12:00
Launch of the 2020-21 mentoring programme: introduction to findacure, mentoring participants, overview of the programme, setting SMART goals (2020-21 group only)
12:00 – 13:00
Registration for 2019 cohort and lunch for all attendees
13:00 – 14:30
Training session: topic tbc
14:30 – 15:30
Progress talks from 2019 cohort
15:30 – 15:45
Presentation ceremony for graduating mentees and mentors
15:45 – 16:15
Afternoon tea (and networking time until 17:00 for 2020-21 group)
16:15 – 17:00
Focus groups (2019 group only)
Findacure will reimburse travel expenses for all attending mentees and mentors up to the total value of £75.00 per person, contingent upon the production of valid receipts.
In some circumstances, we may be able to cover expenses claims over £75.00. If your travel is likely to exceed this amount, please contact email@example.com. Please note, we can only guarantee further reimbursement if this has been agreed through prior communication with the charity.
Join us on Wednesday 18th March in Seminar Room 1 of the Clinical School for an educational talk on Behçet’s Syndrome.
Behçet’s Disease or Behçet’s Syndrome is a rare inflammatory disorder that affects the blood vessels and tissues. This complex and lifelong condition is poorly understood. This informative evening aims to improve awareness of this potentially debilitating disorder among healthcare professionals and medical students.
Come along to hear our speakers Tony Thornburn OBE (Chair of Behçet’s UK) and Suzanne Morris (Behçet’s patient) discuss the details of Behçet’s Syndrome from a professional and patient perspective, as well as challenges faced by a rare disease charity.
The event will be completely FREE with all healthcare professionals and medical students welcome. Refreshments and snacks will be provided and certificates of attendance given.
What defines a genetic disease and when might gene therapy be used?
‘Let’s Talk About Health’ is all about advancing our knowledge of normal human and animal biology, and what goes wrong in disease.
Join us to hear about new research in our University that is increasing our understanding of diseases and providing new advances in treatment of both humans and animals. Guests will be able to talk to our young scientists about their research, and S4 and S5 pupils will have an opportunity to tour our labs before the talks at Edinburgh BioQuarter, or participate in a workshop before talks at Easter Bush. We look forward to seeing you there!
What defines a genetic disease and when might gene therapy be used?
David Fitzpatrick, Stuart Cobb, Queen’s Medical Research Institute
The term “genetic disease” can be used to describe a condition that is caused by a severe disruption of the sequence of an individual gene (known as a single gene disorder) or the influence of more subtle changes in many different genes on the chance you will develop a common disorder such as asthma or arthritis (known as complex genetic disorders). The former group are mostly very rare and the latter common. Although single gene disorders are rare they have been very important in helping us understand the understand the underlying mechanism of more common genetics disease. Single gene diseases are also leading the way in the application of novel genetic therapies.
Join us to hear about exciting new approaches for previously untreatable disorders that use engineered viruses to deliver gene therapy to the brain. This holds great promise for the treatment of severe genetic neurological disorders in both children and adults. To implement this exciting technology safely it is very important that we understand the consequence of the genetic changes in each rare disorder to determine whether we need to replace a gene product or remove it. This is an excellent paradigm for the future of personalised medicine.
This lecture is free and open to all.
Doors open 4.30pm with teas and coffees available.
Lab tours and/or workshops offered to S4-S6 school pupils (first-come-first-served) from 4.30pm -5.25pm.
Details of the University of Edinburgh full privacy notice can be found here
We want to run a safe and accessible event and provide the best possible experience for you. By providing any information required on the booking form, you are giving the University consent to hold and process this data about you and to advise our suppliers of these details, under data protection regulations, for the purpose of running this event. By providing this information about your guest, you are confirming that you have their permission to share this data with the University for the same purposes. Any dietary and accessibility requirements are deleted following completion of the event.
This event may be photographed and/or recorded for promotional or recruitment materials for the University and University approved third parties. For further information please contact firstname.lastname@example.org
It was with great sadness that after a battle with cancer Shelagh Cheesman passed away in March 2018. Shelagh was a much loved, admired, inspirational person who touched a great many lives. She was a key Cambridgeshire Lupus Group Committee member fighting for and helping everyone with their battle against lupus while battling it herself. You can read more about Shelagh HERE.
Agenda for Lupus Information Day
Registration for the Lupus information day starts from 12.30pm, with the event itself starting at 1.20pm. We will have a number of expert speakers including; (click on their names for further details)
This is a ticketed event, although tickets are available free of charge. You can request tickets using the form below, by emailing email@example.com or calling 01708 731251 (Mon-Fri, 9am-5pm). Please ensure you state the name of all guests when ordering tickets.
RARE DISEASE WORKSHOP – RAISING AWARENESS AND COORDINATION OF CARE
About this Event
We look forward to welcoming you at the 2020 Rare Disease Workshop – Raising Awareness and Coordination of Care
Care Co-ordination for Rare Disease Workshop Aims
To look at the achievements to date against the 3 priority areas – The role of research, raising awareness of rare diseases amongst healthcare professionals and co-ordination of care.
To help prepare a set of realistic short/medium term deliverables in relation to raising awareness of rare diseases amongst healthcare professionals and co-ordination of care.
To help gain a set of long term deliverables which will contribute to the development of the Rare Disease Strategy for Scotland Post 2020
1. Can I bring someone along with me?
Provided that person has registered, yes. Unfortunately, we will not be able to admit anyone that has not registered in advance.
2. Can I claim expenses from you for the event?
No. Any expenses would have to be claimed through your own organisation.
3. Can I park at the Venue?
No. There is paid car parking nearby if required: https://www.edmosque.org/contacts/
4. If you have any dietary requirements?
You can e-mail: Thomas.Cranston@gov.scot
5. Where can I contact the organiser with any questions?
You can e-mail: Thomas.Cranston@gov.scot
Personal Data – Key Facts
The Scottish Government will use the data provided when registering to plan for attendance at this event.
Contact details will be used to share relevant information with attendees in advance of the event, as well as to request feedback afterwards and will be retained by the UK Rare Disease Policy Board members so that you can be notified of future similar events. Please let us know if you do not wish your contact details to be retained.
You can read more about the Scottish Government’s policy on personal data here
Eyeforpharma Barcelona 2020 is organized by eyeforpharma. The session will commence from Mar 31 – Apr 02, 2020, at International Barcelona Convention Center, Barcelona, Spain.
Description of Eyeforpharma:
Eyeforpharma Barcelona is an event that unites market access executives, key market access authorities and pharma leadership from across the commercial and clinical spectrum to hasten harmonization and spark our next evolutionary leap forward.
The biggest commercial pharma event
Being a pharmaceutical leader was once all about what you could sell. Marshalling your troops like a grand army, ready to fight for your share of voice. But customer expectations have moved on. We need a new kind of direction. One that is authentic, digitally native, all about data-driven decision-making, value-based on principle and empowering a new era of customer engagement.
To affect this change, 2000+ pharma leaders (from across Commercial, Marketing / Digital, Medical, Patient Engagement, Market Access, RWE and Clinical) will join healthcare’s brightest innovators at eyeforpharma Barcelona 2020 – where pharma decision-makers come to learn, collaborate and see the future of our industry.
• A cross-functional audience. Everyone in commercial pharma is there, all learning from each other.
• Ambitions to redefine pharma as the solution provider. Not just to run another conference.
• Over 80 solution providers. If you want to go shopping, this is the place to find the perfect partner.
• Curated content. Hundreds of discussions will go into preparing our agendas to ensure they’re tailored to your needs.
• Heavy Case-studies are performed as you need to see real, detailed examples. Our speakers will provide you with them.
Eyeforpharma 2020: 4 essential themes
• Authentic Leadership:
Assure integrity and accuracy in decision-making and portfolio design. Gain healthcare’s trust through medically-driven content, customer innovation, and holistic patient solutions
• Hit Commercial Goals:
Turn HCPs into influencers and encourage patient champions. Use content, education, empowerment, and open innovation to harness external relationships
• From Drugs to Treatments:
Use cloud platforms, data insights, and JVs with start-ups to generate a new suite of digital products, value-added services, and cell & gene therapies. Go from druggable & reactive to curable & preventative
• Digitize Evidence:
Prepare a superior mix of virtual clinical trials and regulatory-grade RWE to gain authorization, widen access, boost launch and drive patient outcomes
For the full agenda and further details and to book tickets https://www.eyeforpharma.com/barcelona/
Faster Analysis of Neurodevelopmental Disorders with Congenica Neuro
Around 300 million people worldwide are thought to have epilepsy or a neurodevelopmental disorder. Many of these disorders are now known to have an underlying genetic origin, with a molecular cause being found in approximately 40% of cases.
Genetic heterogeneity is high in these cases, with over exome or genome approach combined with the use of virtual gene panels therefore maximizes diagnostic yield for these children, but can represent an analytical and interpretive challenge for even the most experienced physician or scientist.
Join the Faster Analysis of Neurodevelopmental Disorders with Congenica Neuro webinar
In this webinar, State Registered Clinical Scientist Louisa Ive will demonstrate the use of Congenica Neuro as a way to streamline the molecular diagnosis of children with neurodevelopmental disorders and epilepsy, whilst optimizing diagnostic yield. She will share how improved workflows lead to increased throughput and confidence, as well as improved patient outcomes. At this event you will learn: – The current diagnostic challenges faced in treating children with neurodevelopmental disorders and/or epilepsy – How to maximize workflow efficiency and diagnostic yield using advanced clinical decision support software in conjunction with integrated expert gene curation – The real-life benefits of using a streamlined, standardised approach
Register here https://register.gotowebinar.com/register/6212705095423967500?source=Neuro+EComms+2
Louisa Ive, MSc HCPC, received her undergraduate education at University College London, London and completed her Clinical Scientist training at St George’s University Hospital, London. She is a practicing Clinical Scientist, certified by the Health & Care Professions Council and currently working within the Clinical team at Congenica. Her clinical expertise within genetics is broad, however, she has a subspecialty interest in pre-implantation and prenatal diagnosis. Her MSc thesis explored extended next generation sequencing testing in colorectal cancer patients. Louisa is a former Chair of the London Healthcare Science Trainee Network and is a current member of the British Society of Genetic Medicine.
Our World in Data. https://ourworldindata.org/neurodevelopmental-disorders
World Health Organization (2019). https://www.who.int/news-room/fact-sheets/detail/epilepsy
Shashi V, et al. Genet Med. 2014 Feb;16(2):176-82.
The Development Disorder Genotype – Phenotype Database (DDG2P). https://decipher.sanger.ac.uk/ddd#ddgenes
Do you work in the healthcare industry, and need to learn more about how regulatory agencies and HTAs will work with real-word evidence (RWE) for rare diseases? Are you a payer trying to understand the implications of high-cost, innovative treatments? Are you a researcher looking to apply RWE in your work? A patient/patient advocate keen to learn more about the potential real-world data offers to rare disease patients? Or are you a consultant, research organisation or service provider looking to connect with RWE and HEOR experts in industry and academia?
RWE – derived from real-world patient data that are routinely collected from a variety of sources (electronic health records, patient surveys, claims databases, digital devices, and many more) – has the potential to completely alter how decisions are made to regulate, grant access to and pay for healthcare. And nowhere is the potential greater than in the research, diagnosis and treatment of rare diseases, where randomised controlled trials are highly challenging, if not impossible, to conduct, and innovative, high-cost and potentially curative therapies have the potential to turn the standard regulatory, access and reimbursement paradigms upside down.
In response to the need to convene all healthcare stakeholders – pharma, biotech & medical device companies, HTAs and regulators, payers, academics, patient advocacy groups and service providers – we have launched Real-World Evidence 2020: Rare Diseases and Innovative Therapies, in partnership with the Journal of Comparative Effectiveness Research and The Evidence Base®. Over two days, we’ll convene all members of the community who, together, can make the use of RWE in rare diseases and innovative therapies a reality.
As well as providing a platform for the presentation and discussion of ideas, offering the opportunity to connect with other stakeholders is core to the mission of Real-World Evidence 2020: Rare Diseases and Innovative Therapies. Communication is key to progressing this field, so over the two days there will be plenty of opportunities to network, meet new contacts and – of course – enjoy a drink at the evening reception!
The ethos of the event is to facilitate meaningful conversation and then, crucially, support the translation of discussion into action. In order to further drive future conversation and tangible outcomes beyond the meeting, the Journal of Comparative Effectiveness Research will be publishing a post-event White Paper, summarising the important conversations that take place, and setting the agenda for further action and themes for future meetings. We hope that the White Paper will disseminate the conversations beyond the meeting attendees to the wider community, and form the basis for even broader conversations on using RWE to support the improved management of rare diseases and use of innovative therapies.
Who will be there?
Pharma, biotech & medical device companies
Regulators and HTAs
Academics and researchers in RWE, big data and HEOR
Patient advocacy groups
Market access specialists
Medical communications agencies
HEOR service providers from across the UK and Europe
What will the event look like?
Our mission is to convene a community of collaboration and best practice around the practical application of RWE in rare diseases and innovative therapies, and we have created an exciting conference format, with two zones:
The Listen & Learn Zone comprises presentations and panels, with ample time for questions and discussion, enabling participants to learn about the latest developments.
The Conversation & Collaboration Zone creates a space for roundtables and interactive conversations, creating an environment to share, build relationships and collaborate on future projects. The Conversation & Collaboration Zone also showcases authors from a range of Future Science Group publications, including the Journal of Comparative Effectiveness Research.
What will be discussed?
Understanding how RWE can impact on rare diseases
Coordination and collaboration across Europe for rare disease research
Understanding the regulatory framework for RWE
The development of RWE to support drug coverage and formulary decisions
Value assessment in rare diseases and innovative therapies
Using RWE to inform clinical trial design in rare diseases
Achieving transparency in the generation and use of RWE
Big healthcare data and genomics
Rare disease registries
Using mobile devices to gather patient health data
Cystic Fibrosis: From Gene to Precision Medicines 2020
Public Lecture by Professor David Sheppard
In the inherited disease cystic fibrosis (CF), thick sticky mucus blocks the lungs and bowel, leading to breathing difficulties and problems digesting food. Thirty years ago, the faulty gene responsible for CF was identified. This lecture will highlight research that has led to the development of precision medicines that target the root cause of disease, which are transforming the treatment of CF.
Evaluating the potential of drug repurposing for rare diseases and Covid-19
With a global pandemic in full swing, there is an essential worldwide research effort to identify potential treatments, cures, and vaccines for Covid-19. At this time of international crisis, a large number of companies and researchers are turning to drug repurposing as a potential solution – but what is repurposing and why is it such an attractive route for drug development at this time? For many years, UK charity Findacure has been discussing and promoting drug repurposing as an essential tool for the development of new treatments for rare diseases. In this webinar, Findacure CEO Rick Thompson will outline the basics of this route to drug development, explain why it is such an appealing approach in tackling both covid-19 and rare conditions, and highlight how the rare disease community has been spearheading advances in drug repurposing over the last few years.
Note: This link should not be shared with others; it is unique to you. 2. Choose one of the following audio options: TO USE YOUR COMPUTER’S AUDIO: When the Webinar begins, you will be connected to audio using your computer’s microphone and speakers (VoIP). A headset is recommended. — OR — TO USE YOUR TELEPHONE: If you prefer to use your phone, you must select “Use Telephone” after joining the webinar and call in using the numbers below. United Kingdom: +44 330 221 9922 Access Code: 855-613-047 Audio PIN: Shown after joining the webinar
“As we self-isolate, we must be careful not to isolate our ideas and thoughts. Ironically, it has never been more important for our industry to share, collaborate and inspire. For that reason, we have not cancelled the eyeforpharma Philadelphia meeting, but we’re moving it online. It is also now entirely free of charge to attend. I’m humbled that the speakers and supporters that were due to present are moving online with us, and share with us a desire to ‘do what we can’ to make sure that we carry on communicating. I believe the event will be stronger than ever, and more influential – at just the right time.”
Paul Simms, Chairman, eyeforpharma Why eyeforpharma Philadelphia Virtual is essential viewing: It’s free for all to join: In such a difficult time, we want to unify the industry and we’ve taken the decision to allow anyone to sign up to listen live, ask questions and participate. If you work for a pharma or biotech, you’ll also get access to a full meeting service so you can set up bespoke 1-1 meetings with fellow attendees. A speaker faculty even better than before: You’ll learn from 100+ speakers with 60+ free sessions – presentations, panels, fireside chats, interactive workshops and Q&A, You’ll also see hours of additional live and on-demand content, including never-before-seen interviews with Kabir Nath, President & CEO North America, Otsuka, Julie Gerberding, EVP and Chief Patient Officer, Communications, Global Policy and Population Health, Merck, James Musick, VP and Head of Digital Transformation, Neurology, UCB, and many more. Connect with industry leaders around the world: Without the constraints of geography, we’ll have thousands of industry leaders from across the globe coming together to network and collaborate. Complete virtual meetings platform: Send messages to connect 1-on-1 with your fellow attendees. Schedule meetings and use a virtual private meeting room to chat. Full virtual exhibition: Showcasing over 50+ exhibitors, search for the latest services and technology solutions from your desk, watch demo videos and the ability to share your virtual business card. Register for FREE here: https://www.eyeforpharma.com/philadelphia/
Join the conversation and become healthcare’s solution.
Get a detailed understanding of the NHS – its inner workings, current and future challenges, and how it all fits together.
Learn how healthcare is delivered in the NHS
The National Health Service (NHS) is a source of British national pride placed above the BBC, the British Olympic team, and the Royal Family. It affects the lives of millions of people.
But have you ever wondered how many people it takes to keep a nation healthy? Or how much money it costs to run the NHS? Or why hospital waiting times are always in the headlines?
This course will help you understand what keeps the fifth largest employer in the world running. You’ll explore the challenges facing the system, and how to ensure the NHS is fit for the future.
What topics will you cover?
How the NHS in England is structured
How different services work together to deliver health care in the NHS
How funding flows through the system
How well the NHS is doing
How performance is measured in the NHS
Future challenges facing the NHS and how the system is changing in response to this
When would you like to start?
Most FutureLearn courses run multiple times. Every run of a course has a set start date but you can join it and work through it after it starts.Find out more
What will you achieve?
By the end of the course, you’ll be able to…
Demonstrate a wide understanding of how the constituent parts of the NHS in England work together to deliver health and care services
Discuss the future challenges facing the NHS and the way in which the system is adapting to meet these challenges
Summarise the various ways in which the NHS measures how well it is performing
Explore the resources required needed to keep the nation healthy
Who is the course for?
This course is for anyone interested in the NHS in England and how it works. This includes NHS and social care staff in England (working in both clinical and non-clinical roles), students considering a career in the NHS, and patients and the public.
There are many unprecedented challenges facing the rare disease community due to COVID-19 — maintaining patient access to rare disease therapies, managing delays in clinical trials, and ensuring patient support are all top of mind. This webinar will feature rare disease leaders who will discuss how they are navigating the obstacles posed by the pandemic and answer questions such as: What are orphan drug developers doing to ensure continued access to therapies for rare disease patients? How are patients responding to personal challenges posed by COVID-19? What is the impact and future outlook of delayed clinical trials? Moderator: Sophie Schmitz, Managing Partner, Partners4Access Annie Kennedy, Chief of Policy and Advocacy, EveryLife Foundation for Rare Diseases Vikram Karnani, Executive Vice President, Chief Commercial Officer, Horizon Lynsey Chediak, Patient, Project Lead, Precision Medicine, World Economic Forum This webinar is the first of several produced by the 10th annual World Orphan Drug Congress USA, now taking place on August 24th-26th in Washington, DC. Click here to learn more: https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/index.stm
Hear from people living with nerve tumours and clinicians as we review and discuss current approaches to diagnosis and treatment, in the light of advances in molecular biology and imaging.
What will you learn?
By attending this meeting exploring living with nerve tumours, you will have the opportunity to:
Understand the epidemiology, biology and genetics of Nerve Tumours – neurofibromatosis I (NF1) and neurofibromatosis 2 (NF2)
Appreciate the impact of living with NF1 and NF2 nerve tumours first-hand from patients
Learn about the recognition of malignant transformation (NF1)
Discover the management of NF2 nerve tumours
Explore today’s treatments
Understand the management and support for people with nerve tumours
Welcome and introduction
Professor Rosalie Ferner, Guy’s and St Thomas’ NHS Foundation Trust, Professor Gareth Evans, Manchester University NHS Foundation Trust, Dr Dorothy Joe, SpR Neurology, Guy’s and St Thomas’ NHS Foundation Trust and Mr Michael Fry, Chair, Nerve Tumours UK
Session one: Symptoms and diagnostic journeys and parallel symptoms
Epidemiology, biology and genetics of nerve tumours (NF1 and NF2)
Professor Gareth Evans
Session two: Diagnosis and clinical manifestations – parallel sessions
NF1: Benign and malignant nerve sheath tumours in NF1
Professor Rosalie Ferner
NF2: Vestibular schwannoma and meningioma
Professor Gareth Evans and Raji Anup CNS Manchester University NHS Foundation Trust
NF1: Impact of living with nerve tumours: Birth to old age a patient and a parent’s perspective
Richard Goode and Alex Hetherington
NF2: Impact of living with nerve tumours: Birth to old age a patient perspective
Tea and coffee break
Session three: Management of nerve tumours – parallel sessions
NF1: Surgical treatment options for plexiform
Mr Simon Eccles, Plastic Surgeon, Chelsea and Westminster Hospital NHS Foundation Trust
NF2: Management of NF2 related tumours
Mr Nick Thomas, Kings College Hospital NHS Foundation Trust
NF1: Medical treatment options: Use of selumetinib and pain relief
Dr Karine Lascelles, Paediatric Neurologist, Guys and St Thomas’ NHS Foundation Trust London and Dr Grace Vassallo, Paediatric Neurologist, Manchester University NHS Foundation Trust
NF1 and NF2 Joint session: Management of symptoms
Mental health: Anxiety and depression
NF specific challenges to delivering therapy
Challenges for the care
Dr Alastair Santhouse, Psychiatrist, South London and the Maudsley,
Dr Susie Henley, Psychologist, Guys and St Thomas’ NHS Foundation Trust London,
Mary Thomas, Clinical Nurse Specialist Guys and St Thomas’ NHS Foundation Trust London and
Judith Eelloo, Clinical Nurse Specialist, Manchester University NHS Foundation Trust
Panel: Dr Alastair Santhouse, Dr Susie Henley, Mary Thomas, Judith Eelloo and the Patients
Close of meeting
A drinks reception will follow the meeting, which all attendees are invited to
Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom
About Medicine and Me
Medicine and Me meetings aim to provide an outline of current best practice and future updates of important conditions and to give direct voice to patients and their carers and enable them to discuss their concerns and reflections on the impact of diagnosis, investigation and management.
Physicians and surgeons and indeed all healthcare professionals continue to learn from and be inspired to greater efforts to improve care by hearing directly from patients.
Join in the conversation online Follow us on Twitter: @RoySocMed
Annual General Meeting of the Batten Disease Family Association 2020
Notice of Annual General Meeting of the Batten Disease Family Association
NOTICE IS HEREBY GIVEN that the Annual General Meeting of the Batten Disease Family Association will be held at 12pm at the Davies Room, the Link Hotel, Ashby Road (A512), Loughborough, Leicestershire LE11 4EX.
The venue is fully accessible and the AGM will be followed by lunch. Parking is available on site at the hotel.
For more details on the location, please visit the hotels website- https://www.linkhotelloughborough.co.uk/location/
A family fun day will be held from 10.30-3 on the same day with crafts and entertainment.
Please select tickets for all attendees for the event through Eventbrite
Integrating Genomics into Nursing Practice and Education
Integrating Genomics into Nursing Practice and Education
Nurses comprise over 50% of the global healthcare workforce, and have an important role in bringing the benefits of genomics to patients. Despite this, genomics has not been systematically incorporated into nursing teaching curricula, and there have been no significant changes in nursing practice that bring genomics into day-to-day health care.
This inaugural conference aims to address these concerns by focusing on pathways and resources to integrate genomics into clinical practice and nursing education. Overall the conference will focus on three strategic areas:
Methods of achieving genomic competency, implementation, and integration into the practice setting, academic preparation, regulatory guidance and policy
Mechanisms for international collaborative efforts on nursing genomic integration and evidence-based research
The conference will bring together nurses and educators interested in mainstreaming genomics in the areas of education, practice, policy, research and leadership. The format will include presentations from international leaders, panel discussions and debates. Abstracts on all areas of the conference are welcome for poster or oral presentations.
The conference will start at 12 noon on 27 April and finish at ~2pm on 29 April 2020.
Topics will include:
Driving and measuring change
Exemplars in genomic practice integration
Leadership and collaboration: growing genomic nursing integration from scratch
Policy and regulation
Public, patient, and family expectations of genomics and the healthcare workforce
Action plan for establishing a collaborative genomic nursing competency
The registration fee includes entrance to the lectures and poster sessions, an abstract book, meals (lunch and dinner) and refreshments during the conference. Breakfast will be provided for delegates who have booked accommodation.
Accommodation Accommodation is provided for the nights of 27 and 28 April 2020. Please note: there is limited onsite accommodation and this will be allocated on a first-come, first-served basis. Therefore, early registration is recommended.
If you wish to book onsite accommodation either side of the conference dates, please contact the Conference Centre directly.
Travel visas Contact the conference organiser if you require a letter to support a travel visa application. Please note: letters will only be provided to confirmed registrants.
Non-European Economic Area or Swiss nationals may be required to have a visa to enter the UK. Early application is strongly advised, as this process can take 6-8 weeks or longer.
Please visit the following websites for further information:
We welcome abstracts from all areas relevant to the main themes of the meeting, for both oral and poster presentations. Several oral presentations will be chosen from the abstracts submitted.
Abstracts will only be considered from registered delegates. Please use our online abstract submission system and follow the instructions given to ensure your abstract is submitted correctly. All abstracts must be submitted by the deadline. If you are intending to submit more than one abstract, please contact the conference organiser prior to registration.
The scientific programme committee will assess your abstract after the deadline has passed and you will be notified whether you have been selected for an oral or poster presentation.
Poster boards onsite will accommodate 118 cm high by 84 cm wide (A0- portrait) of printed material. Accepted abstracts will appear in the conference programme book and poster boards will be allocated at the conference.
Abstract deadlines Oral presentations: 4 February 2020 Poster presentations: 03 March 2020
A limited number of registration bursaries are available to attend this conference (up to 50% of the standard registration fee) from Wellcome Genome Campus Scientific Conferences.
Priority will be given to PhD students, trainees and delegates from under resourced regions.
To apply, please contact the conference organiser. You will be sent a unique registration link which will hold your place, without taking payment, until you have been notified of the outcome of your application.
The following documents will need to be provided as part of the bursary application:
Abstract (to be submitted via the portal during the registration process)
A justification letter (explain how you will benefit from attending the conference)
A supporting letter from supervisor or manager stating financial need
If you have already registered for the conference you are still welcome to apply for a bursary, please contact the conference organiser.
Future of Health Virtual is an unprecedented series of Virtual Summits inspired by our annual Future of Health Summit, traditionally held in Bratislava in the month of April.
In light of the current situation and with the goal of helping businesses and the general public cope with the impact of COVID-19, Why Summits has made the decision to host free monthly virtual conferences.
Thanks to a meaningful network of global speakers, Future of Health Virtual Summit offers insight into leading business strategies & intelligence and delivers guidance in a time of uncertainty.
Join us on April 30th for a series of interactive panel discussions, keynotes, interviews, and gain first-hand insight into tools, strategies, and advancements applied in our mutual fight against COVID-19. Registration is free!
We will be meeting on Saturday May 2nd 2020 between 10am and around 4.30pm.
10-10.30 Coffee & arrival
10.30-12.30 Patient/supporter stories and discussion: a chance to get to know one another and our experiences.
12.30-13.30 Lunch provided by Salivary Gland Cancer UK
13.30-15.30 Research updates and clinician speakers.
15.30-16.30 Coffee, wrap up, next steps, chance to chat.
Please email firstname.lastname@example.org if you would like to attend.
Living Rare, Living Stronger 2020 will be rockin’!
NORD is headed to Cleveland, Ohio for the 2020 Living Rare, Living Stronger Patient and Family Forum. What’s even more exciting–the Rare Impact Awards, included in this event, will be hosted at the iconic Rock & Roll Hall of Fame!
Check back often as more information is being released daily.
Living Rare, Living Stronger 2020
Living Rare, Living Stronger is an annual patient-focused conference held in a different location each year. Its agenda provides patients and families with practical tools for living their best lives with rare diseases and physicians and medical students with insights to take back to their practices and studies.
Four distinctive program tracks will present workshops geared towards:
Newly diagnosed patients
Medical professionals and students
In addition to the sessions above, the Living Rare Forum will include a family welcome reception, a dedicated wellness room, children’s programming, and an exhibit hall to add to the excitement of this unique event!
On Friday, May 15, in conjunction with the Forum, NORD will host its annual Rare Impact Awards, bringing attendees together to celebrate those making extraordinary contributions to the lives of people living with rare diseases. Join us at the Rock & Roll Hall of Fame for a night of celebration and recognition.
We thank you for your understanding and solidarity.
The European Conference on Rare Diseases & Orphan Products (ECRD) is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.
The event draws together more than 800 participants from over 50 countries around the world. Leading, inspiring and engaging all stakeholders to take action, ECRD is where innovative solutions in the rare disease field are born. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators.
People living with a rare disease have the right to reach their highest potential of well-being; join us in ECRD 2020 Stockholm to take part in discussions to inform and build the future ecosystem for rare disease policies and services.
The next ECRD will take place on 15-16 May 2020 atStockholmsmässanStockholm, Sweden.
This meeting brings together councils currently using AV1, as well as those wishing to start, for cross-council, best practice learning.
AV1 is a desktop robot used to securely live stream lessons back to children and young people, who are unable to attend school due to health needs.
Application and impact for councils
AV1 is increasingly being used as part of local authorities’ education services, to increase the hours of education available, reduce costs, provide flexible access, as well as deliver a more inclusive, social learning experience.
After a pilot, Essex County Council purchased AV1s, and begun to integrate them within their education services. At the forum they will present their experiences and advice for any other councils wishing to use the tool. See here for more information
The video below shows a similar initiative taken by Somerset County Council.
At the beginning of No Isolation’s journey, it was learnt that social isolation was a big problem among children with medical needs, (whether they are in hospital or at home), so they developed the telepresence avatar, AV1.
AV1 acts as the ears, eyes and voice of a child in the classroom, or anywhere they wish to be, from a birthday party, to the football pitch.
For more information about AV1 and creators, No Isolation see here
AV1 Forum Agenda
You will hear from Essex County Council on how they funded their AV1s, and what their school allocation model looks like. You will learn about teachers experiences with AV1, including what their initial queries were, and how to teach with AV1 in the classroom. The meeting will also address important topics such as data security, safeguarding in schools, and what processes councils must undertake to provide AV1 as part of your education service.
Department for Education
In 2018 , Hospital and Outreach Education were granted £522,142 through the Alternative Provision Innovation Fund, to run a large scale research project, deepening the evidence base on how AV1 can improve outcomes for children in alternative provision.
“Having been involved with alternative provision for nearly two decades, I know firsthand the impact that absence from school can have on a child’s education and mental wellbeing.” – Cath Kitchen, Project Lead
What the teachers say about AV1
“Everyone embraced the opportunity it gave to the student, our user had missed so much learning prior to using AV1. It greatly improved his attendance levels as we marked him present when he was connected to AV1” – Gregg Morrison, Preston School, Yeovil
“AV1 enabled one of my students to take six GCSEs this summer who previously hadn’t been in full time education for years. It’s a marvellous inclusive device – highly recommend it to all schools” – Louise Clancy, Canbury School, Kingston
“We stopped using AV1 after four months when he was well enough to return to school. The social, emotional and mental health benefits were beyond any expectations, and he is now back to his old self; funny and smart. I would absolutely recommend it. Our user, due to his illness, had spent almost one year in total isolation, so using AV1 was literally the end of his isolation.” – Mihaela Chowdhury , Hornbeam Academy, Walthamstow
The 7th annual Genomic Medicine 2020 Edinburgh conference will place on 19th & 20th May 2020 at the Radisson Blu Hotel in the heart of Edinburgh. This event will follow our running scientific theme and focus on Genomic technologies & tools that are used to look at human disease both in research as well as in a clinical setting. We will cover NGS technologies and applications, rare diseases & cancer and many more areas which you can check by clicking on the agenda tab.
Current speakers for this meeting include:
– Prof Ian Tomlinson (Edinburgh) – Prof Andrew McIntosh (Edinburgh) – Prof Ruth Jarrett (Glasgow) – Prof Jill Clayton Smith (Manchester) – Prof John Sayer (Newcastle) …and more as you can view on the ‘Speakers & Agenda tab’.
Specifically at this meeting, we are aiming to cover topics such as cancer evolution, rare disease and disease modelling, genomic approaches to depression, studies using Single Cell RNA Sequencing, applications of whole genome sequencing for rare disease diagnosis, ancestral lineage studies and much more. Keep an eye on the agenda to view updates on speakers and presentation titles.
This conference is organized in partnership with:
South East Scotland Genetic Service
Edinburgh Clinical Research Facility
MRC Human Genetics Unit (Edinburgh)
Glasgow Polyomics (University of Glasgow)
NHS West of Scotland Genetics Service
NETWORKING: the photo above shows a moment during the initial networking session from last year conference. Networking will continue throughout the conference and include an audience session with Response/Voting Debate on Genomics at the end of day 1. After the debate there will also be a Drinks Reception hosted by the Lord Provost of Edinburgh at City Chambers and a networking dinner at a local restaurant to continue discussions in more informal settings.
ACADEMIC POSTER SUBMISSION: We welcome academic poster presentation at our events. If you have some material to present, please send us an abstract by 19th April 2020. This will be reviewed by our scientific committee and if approved you will receive a 15% discount off the conference registration fee.
If you would like to submit a poster, please send us an abstract using our CONTACT US FORM Please submit your poster before registering for the conference as retrospective discounts will not be possible.
Who should attend this event:
NGS users, researchers and students
NHS & Private Labs, Biotech Companies, CRO’s, Service Providers
…and others interested in the latest developments of:
Next Generation Sequencing
Infectious and Inherited Diseases
NGS Data Storage
Molecular and Cell Biology
DRAFT AGENDA 2020
DAY 1 – 19th May
09.00 – 10.30:
Registration, Coffee & Networking
10.30 – 11.00:
Prof Nikolai Zhelev (University of Dundee) – Introduction, Networking and Collaborations Workshop
CHAIR: Dr Shona Kerr
11.00 – 11.30:
Prof Andrew McIntosh, Biological Psychiatry, University of Edinburgh Advances in our understanding and prediction of depression using genomic approaches
11.30 – 12.00:
Prof Ruth Jarrett, Molecular Pathology, University of Glasgow Identifying ancestral lineages of iciHHV-6
12.00 – 12.30:
TECHNOLOGY PRESENTATION by Dr Peter Verhasselt,Integrated DNA Technologies Title
12.30 – 13.30:
Lunch, Exhibition, Networking
CHAIR: Dr Lee Murphy
13.30 – 14.00:
Prof Sophie Hambleton, Paediatrics & Immunology, Newcastle University Title
14.00 – 14.30:
Prof Yanick Crow, Centre for Genomic and Experimental Medicine, University of Edinburgh Title
14.30 – 15.00:
Prof Geoff Barton, Bioinformatics, University of Dundee Title
15.00 – 15.30:
TECHNOLOGY PRESENTATION by Sponsor
15.30 – 16.00:
Coffee, Exhibition & Networking
CHAIR: Dr Lynne Mennie
16.00 – 16.30:
Prof Peter Holmans, Biostatistics and Genetic Epidemiology, Cardiff University Genetic Modifiers of Huntington’s Disease
16.30 – 17.00:
Dr Rita Horvath, Clinical Neurosciences, University of Cambridge Title
17.00 – 17.45:
Audience Responses/Voting hosted by Prof Nikolai Zhelev – Anonymous responses from you on Genomic Issues. Do you have Genomic related issues and are you wondering how others are approaching them? Do you want to ask anonymous genomic questions to the rest of the delegates? This is a session that allows you to ask questions and get feedback from other delegates. You can do this anonymously or debate it openly.
18.00 – 19.00:
NETWORKING DINNER (booking required) at Local Restaurant
DAY 2 – 20th May
CHAIR: Dr Rita Horvath
09.00 – 09.30:
Dr Sean James, Genomics Ambassador West Midlands South Title
09.30 – 10.00:
Prof Andrew Webster, Molecular Ophthalmology, University College London (UCL) The impact of modern genetic testing on patients and families with inherited eye disease
10.00 – 10.30:
TECHNOLOGY PRESENTATION by Steven Garside,Nimagen Optimizing your sample tracking and contamination control with the RCPCR based Human Identification and Sample Tracking kit
10.30 – 11.00:
Coffee, Exhibition & Networking
11.00 – 11.30:
Prof Ian Tomlinson, Director of the Edinburgh Cancer Research Centre Title
11.30 – 12.00:
Prof Jill Clayton Smith, Medical Genetics, University of Manchester Title
12.00 – 12.30:
TECHNOLOGY PRESENTATION by Sponsor
12.30 – 13.30:
Lunch, Exhibition & Networking
CHAIR: Prof Caroline Hayward
13.30 – 14.00
Prof John Sayer, Newcastle upon Tyne Hospitals & Newcastle University Title
14.00 – 14.30:
Dr Sian Corrin, All Wales Medical Genomics Laboratory Title
14.30 – 15.00:
Dr Sebastien Viatte, Genetics, University of Manchester Investigation of monocyte heterogeneity in rheumatoid arthritis using Single Cell RNA Sequencing
15.00 – 15.30:
Coffee, Exhibition & Networking
15.30 – 16.00:
Dr Lynne Mennie, Medical Genetics, University of Aberdeen Evaluation of whole genome sequencing for rare disease diagnosis in NHS Scotland
16.00 – 16.30:
Dr Lucija Klaric, MRC Human Genetic Unit, University of Edinburgh Whole exome sequencing and proteomics in the Viking study
16.30 – 16.45
Closing Remarks, Best Poster Award & Prize Draw
The registration fees below include:
Full access to the conference
Coffee, Refreshments and Lunch on both days
Drinks Reception at City Chamber on 19th May at 6 pm
NETWORKING DINNER: a 3-course dinner will take place on the evening of 19th May at a local restaurant. This is not included in the registration fee and must be added to your booking if you wish to take part. Please note that wine is included in the price.
The prices above are inclusive of 20% VAT: If you are registering from a European Institution/Company (excluding the UK), you do not have to pay VAT. Please enter your Institution/Company VAT number at time of booking and the 20% VAT charge will be automatically removed. If you do not enter a valid VAT number, 20% VAT will be added to your fee.
IMPORTANT NOTES ON PRICING – PLEASE READWHAT’S INCLUDED: The registration fees above include full access to the conference, delegate bag, coffee, refreshments & lunch on both days.
DINNER: the networking dinner at a local restaurant is not included in the registration fees and can be purchased at time of booking.
DISCOUNTS: we can offer discounts for 3 or more people attending from the same Institution/Company. Please contact us if you would like to find out more.
PAYMENT: please note that payment must be made in full at time of booking in order to confirm your registration and guarantee access to the event.
ACCOMMODATION: this is NOT included in the fees above and delegates are responsible for arranging their own accommodation. Please click on the Venue & Directions tab for some information.
VISA: It is sole responsibility of the attendee to take care of his/her own visa requirements. Biotexcel can issue a confirmation letter only after the registration has been completed and payment has been received in full.
We encourage dialogue and interaction amongst all participants and we welcome the presence of sponsors to highlight new technologies, services and solutions within the relevant areas. We have many sponsoring opportunities to suit all budgets, but we can also tailor specific packages to suit your needs. Some examples of sponsorship ideas are below, but please feel free to contact us and we’ll be happy to give you more details and talk about your requirements:
NimaGen delivers high quality products for Molecular Biology, with focus on Sanger and NGS sequencing. NimaGen is dedicated to deliver solutions that help advance life science applications for research and diagnostics. This year NimaGen will promote their Revolution in targeted NGS. Reverse Complement PCR; the safest, the fastest, the simplest Amplicon Resequencing Method Available. Providing a simultaneous target amplification and NGS indexing in 1step, closed tube assay. Visit www.nimagen.com
Integrated DNA Technologies (IDT) is considered an industry leader in oligo production. Vertical integration of reagents, instruments and processes and the focus on quality ensure superior coupling efficiencies resulting in the highest purity, especially for long oligos. IDT is capitalizing on the high quality oligos by supplying innovative solutions throughout the life sciences, including in Next Generation Sequencing. Individually synthesized, quality controlled and normalized Ultramer xGen® Lockdown probes are at the heart of capture panels used in hybridization-based targeted sequencing approaches such as our xGen Exome Research Panel. Chemically modified blocking oligos enhance the capture efficiency, lowering the overall sequencing cost. And IDT provides specialty adapters that enable molecular barcoding and mitigation of index hopping, both contributing to reliable ultra-sensitive variant detection. The application of the rhAmp PCR primer design for the multiplexed amplification of target sequences in the rhAmpSeq technology results in largely decreased primer-dimer formation, higher on-target rates and more uniform target coverage.
Fios Genomics provide a wide range of bioinformatics analysis services to pharmaceutical and biotechnological companies, CROs and academia, supporting drug discovery and development and applied research across all species. Using the best in class tools and methods, Fios provide a functional and interactive reporting architecture, allowing scientists to fully explore their data. We can analyse ‘omics data in combination with other outputs from experiments or trials such as imaging data and clinical information. This helps to build up the data picture while ensuring that a robust analysis is delivered. Our team is a combined resource of in-house bioinformaticians, statisticians and biologists working together to analyse and interpret high-volume, high-dimension data including those generated with: – next generation sequencing, – microarrays, – proteomic, metabolomic & lipidomic platforms. A spin out of the University of Edinburgh, Fios Genomics use a number of network databases and tools to ensure that each work flow is bespoke and fits the data type.
PREVIOUS YEARS SPONSORS
This enviable city centre location lies just 13 kilometres from Edinburgh Airport (EDI) which is easily accessible thanks to regular Airlink buses and Edinburgh tram system which take passengers to and from the city centre in approximately 30 minutes. A taxi is likely to take 20 – 25 minutes depending on traffic.
The Radisson Blu Hotel, Edinburgh is within easy walking distance of the city’s central railway hub, Waverley Station. Waverley is the main route into the city, and is serviced by trains from England’s west coast line coming up from Birmingham and the Lake District, as well as England’s east coast line that originates in London and calls at York and Newcastle. Direct trains from London’s Kings Cross now reach Edinburgh Waverley in less than four and a half hours. There are regular services coming south too from Inverness and Aberdeen, plus a shuttle service that runs to and from Glasgow, Scotland’s other major city, every 15 minutes. Direct trains from Edinburgh Waverley to the centre of Glasgow take just 50 minutes.
Main roads into the city centre lead towards Princes Street just two minutes away from the hotel. Approaching from the south east Follow the A1 into the city centre towards Princes Street, then turn southwards onto North Bridge and the hotel is just left at the High Street. Approaching from the west From the M8, take the city bypass north for one junction, then turn right onto Glasgow Road. After Haymarket Station, follow the B700 towards the Grassmarket, Cowgate and turn north up Blackfriars Street where you can find hotel parking. Approaching from the south west Turn off the M6 onto the A702 and follow this route until you reach Princes Street. The one-way system takes you north to Queen Street along to the roundabout at John Lewis and up Leith Street. Continue southwards, over the North Bridge, and the hotel is just to the left at the High Street. Approaching from the north Coming over the Forth Road Bridge, follow Queensferry Road (the A90) into the city centre. Cut through Randolph Crescent to Queen Street, then along to the John Lewis roundabout and up Leith Street as above.
Parking in Edinburgh
The Radisson Blu hotel has car parking space for 131 vehicles, available on a first come, first served basis. This is accessible via Blackfriars street. Hourly rates from £5 per 2 hrs apply unless you are staying overnight and in that case the reduced rate is £12.50 a day. The car park entrance is on Blackfriars Street. When approaching the hotel southwards from Princes Street, turn left from North Bridge and continue to the first set of traffic lights. Turn right down St Mary’s Street, then take your first right at the traffic lights onto the Cowgate, and then right up Blackfriars Street. Alternatively, there is an NCP car park on 2 Viewcraig Gardens, Edinburgh EH8 9UL (NCP Car Park Edinburgh Holyrood Road). The cost is £20 per day.
Join us for the 2nd episode in our series of informal, online broadcast interviews with different guests and personalities ~ next up, we’re delighted to be joined by Sue Duraikan, with the conversation once again hosted by the charity’s CEO Michael McGrath.
Many of us are missing Premier League football right now. There’s nothing like watching your team demolish the opposition with a superb performance of skill and determination. And if you play the beautiful game, it’s amazing to be part of a team that works brilliantly together to win the league.
But in tough times like these, we have to switch our focus to the team that will get us through: our family unit. We are spending much more time together than ever before. The way we communicate with each other can strengthen all of us to cope with the daily strain and stress. It’s time to get to the training ground and build our skills!
Sue Duraikan runs Duraikan Training, a learning and development consultancy offering workshops, teambuilding events and one-to-one coaching. She helps people develop skills and confidence to handle common challenges at work: dealing with difficult relationships, managing staff performance, building a team, becoming a leader & handling conflict.
Since the lockdown, at home with husband and 3 teenagers, Sue has been reflecting on how we can build our resilience as a family to cope with stressful situations. She has concluded that the way we communicate with one another is critical to our ability to cope and wants to share 3 key skills that will enable us to support one another as a unit.
More info here https://www.facebook.com/events/263930494850591/
Duchenne UK is hosting a webinar to update patients, caregivers and the community on the progress of Project HERCULES.
We’d like to thank you for your involvement in the project, whether that was through attending our very first meeting in 2016, or attending our Advisory Board, or filling in questionnaires and agreeing to be interviewed.
We will be recapping the progress of the project and why it is so crucial to help speed up access to treatments. We will share the progress we have made and update on our future plans.
The webinar will take place on Thursday 4th June at 7pm and will be hosted by Duchenne UK’s co-founder Emily Crossley, with presentations from Project HERCULES Project Manager, Josie Godfrey, and Fleur Chandler, who chairs the steering group.
We are really grateful for your involvement in the project, and so we wanted to send you the registration link, ahead of sharing it with our wider community, to give you priority to register.
Please join us for our next virtual session of NDF’s 7th Annual Symposium on GNE Myopathy – this year brought to you as a series of online presentations. Each event in our speaker series promises to be a fact-filled event including up-to-the-minute information and presentations from scientists and industry professionals all working with NDF to further our mission on behalf of GNE Myopathy patients, worldwide. Register here https://bit.ly/3ceuqHV
Learn more about Spontaneous Coronary Artery Dissection (SCAD), an underdiagnosed heart condition that affects otherwise fit, healthy people without warning.
SCAD experts will provide updates on the UK research, links with associated conditions such as Fibromuscular Dysplasia (FMD) and more.
Network with SCAD patients, families, friends and healthcare professionals.
Anybody affected by SCAD (Spontaneous Coronary Artery Dissection) is welcome to attend.
In 2018 we had almost 120 delegates, 68 of whom were SCAD survivors. We hope to make our 2020 event the biggest ever gathering of SCAD survivors in the UK and very much hope that you will want to come along. Partners, family members and friends are also very welcome to attend.
Learn about SCAD
Our aim is to answer your questions, educate, inform and inspire you with all that life after SCAD has to offer.
Dr Abtehale Al-Hussaini (Dr Abi) who worked on the research project and now runs a SCAD Clinic at the Chelsea and Westminster Hospital in London.
Dr Alice Wood, Clinical Research Fellow on the SCAD research programme.
The UK SCAD experts have seen more SCAD patients than anyone else in the UK. They will be giving an update on the research so far and answering your questions about SCAD, medication, FMD, pregnancy and more.
Meet patients, families and friends
Meeting other people who have ‘been there’ and ‘get it’ is invaluable for most rare disease patients, no matter how long ago they had their event. Family and friends also need support and the conference is an ideal opportunity to meet people who understand something about what those affected by SCAD are living with.
There will be plenty of opportunities to talk to other SCAD patients, families and friends during the coffee and lunch breaks and this year we will look to introduce different networking activities to make it as easy as possible for you to talk with others.
Get involved on the day
Our ‘Inspiration Board’ returns – why not bring photos of you doing something amazing after SCAD to share with the conference?
Submit your burning questions in advance for Dr Adlam, Dr Al-Hussaini and Dr Wood to answer on the day – look out for an email from us requesting your input
We are offering sponsorship opportunities and exhibition space to both commercial and not-for-profit organisations wishing to take advantage of the Beat SCAD Conference as a way to support the charity and engage with participants and healthcare professionals. Details of the opportunities can be found here.
If you or your friends/family are interested in supporting Beat SCAD on 6 June, please email email@example.com.
Join The Muscle Help Foundation for the 3rd episode in our series of informal, online broadcast interviews with different guests and personalities ~ next up, we’re thrilled to be joined by England Powerchair Football Captain, Jon Bolding.
Jon will be talking to long time Muscle Warrior Volunteer, our CEO’s favourite son-in-law and huge football fan Jake Kanter. Join us as they discuss all things Powerchair Football, Jon’s career highlights and tackling homeschooling!
Introduced to the sport of Powerchair Football aged 13, Jon has become one of the world’s leading Powerchair Football players and is currently the most decorated player in the UK. In addition to England Captain, he is also the current Captain of Aspire Powerchair Football Club winning 7 league titles and 5 WFA Cups. Having played in Japan, America, Portugal, France and Denmark, Jon has been a part of every England Squad since he started playing 18 years ago, last year leading England to win the European Championship in a dramatic penalty shoot out.
We’ll once again be bringing alive our #StrongerTogether ethos by streaming live across our Facebook and YouTube channels, enabling all Muscle Warriors across the country to engage, stay connected and ask Jon all the questions they’ve ever wanted to ask an England Captain!
Want to find out more about ‘getting involved’ in health research as a public contributor in Cambridge?
This short, 40 minute session looks at what we mean by getting involved in research, and how your experience and feedback can make our research better.
Our Patient and Public Involvement (PPI) team will discuss examples from Cambridge, and one of our public contributors will share their experiences.
The session includes a 10 minute question and answers time at the end.
A partnership between Cambridge University Hospitals and the University of Cambridge. Based on the Cambridge Biomedical Campus, it combines on a single site scientific research in world-class institutes, patient care in NHS hospitals, and drug discovery in pharmaceutical companies.
Shortening the Timeline for Developing New Treatments – How the Rare Disease Cures Accelerator – Data and Analytics Platform (RDCA-DAP) Can Help
in the National Organization for Rare Disorders (NORD®), Critical Path Institute (C-Path), and the US Food and Drug Administration (FDA) for an exclusive webinar on the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP). RDCA-DAP is an integrated database and analytics hub designed to build novel tools to accelerate drug development across rare diseases.
This webinar will explore why your organization should contribute to the RDCA-DAP, how to submit data, and how you can access and use the data and analytics platform. NORD, C-Path, and FDA will be available to answer specific questions about the project.
This webinar is appropriate for pharmaceutical, biotech, and medical device companies working in rare disease research and drug development, though all are welcome to join. Content will be of greatest interest to Chief Medical Officers, Heads of Clinical Development, Directors of Data Analytics, R&D, Data Science, Corporate Compliance, Corporate Affairs, and Advocacy.
Pamela Gavin, Chief Strategy Officer, National Organization for Rare Disorders
Michelle Campbell, PhD, Sr. Clinical Analyst Stakeholder Engagement and Clinical Outcomes, FDA, Center for Drug Evaluation and Research
Jane Larkindale, DPhil, Executive Director, Rare Disease Cures Accelerator-Data and Analytics Platform and Duchenne Regulatory Science Consortium, Critical Path Institute
Robert C. Alexander, MD, Vice President and Head, Global Clinical Science Neuroscience Therapeutic Area Unit, Takeda Pharmaceuticals International Co.
Funding for this webinar was made possible, in part, by the US Food and Drug Administration through grant U18 FD 005320. Views expressed in written materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does any mention of trade names, commercial practices, or organization imply endorsement by the United States Government.
There are regulatory processes and procedures to expedite approval and access, and to help support the development of medicines for the treatment of rare diseases. This course will provide key information about those regulatory processes and first-hand insights on how to get the best out of them.
This CRED course will provide a comprehensive understanding of the opportunities and challenges offered by orphan drug regulations and practical advice on how to navigate them. Although orphan drugs are designed to deliver new solutions for the treatment of rare diseases they are forecast to account for 55% of the European pipeline by 2022*. (*EvaluatePharma Orphan Drug Report 2017) This course will cover:
Orphan Medicinal Product Legislation
Obtaining and maintaining orphan drug designation
Primarily focused on EU but will provide a global perspective as well
Benefits to delegates
Acquire key information about regulatory processes intended to expedite early access to innovative medicines
Get practical advice on how to prepare and manage orphan submissions
Get first-hand insights on how to get the best from orphan drug regulations
Meet and learn from experts in the field and share the experiences of fellow delegates
Learn by doing – participate in case studies and interactive sessions
Build a network to support the rest of your career
Take a course designed by professionals for professionals with a proven track record
CPD: This course provides 8 CPD hours upon successful completion To learn more about why Continuing Professional Development is important, visit our Lifelong Learning page.
The Orphan Drug Act (ODA) established in 1983 compelled producers to expand scale to treat uncommon/orphan diseases, and the orphan drug panorama has advanced drastically. Approvals for orphan drugs has doubled in the past decade, and there are over 500 applicants in the pipeline for orphan
“Markets and Markets Digital Event on Orphan Drugs and Rare Diseases” scheduled to be held on 9th -10th July 2020 will provide interactive sessions and networking with biotech, pharma, academicians and investors to discuss your latest technological solutions and advancements within the field of rare diseases & orphan drugs that facilitate current and future challenges in drug analysis.
• The growth of orphan drugs for rare diseases
• Challenges and opportunities in treatment
• Improving clinical trials for rare diseases
• Classification by types of rare diseases and therapy options
• Commercialization and pricing strategies for orphan drugs
• Discussion on current regulatory measures for manufacturing orphan drugs
EXPERT SPEAKER PANEL
• Patricia Weltin, CEO/Founder, Beyond the Diagnosis
• Gregory R Stewart, PhD- Senior Vice President, Vector Delivery and Optimization, Axovant Sciences
• Karen Cashmere, Chief Commercial Officer, ZyVersa Therapeutics, Inc.
• Evelina Paberžė, Chief Operating Officer, HRA Pharma Rare Diseases
• John Lagus, Managing Director of Business Development, Tanner Pharma Group
• Karen Frascello-Director, Global Medical Affairs, Early Access, Alnylam Pharmaceuticals
• Stephen Groft-Senior Advisor to the Director, NCATS, NIH
• Dr. Michal Konstacky, MD, PhD, MBA, Global Medical Lead SHP 647, Shire Pharmaceuticals
In such a difficult time, we want to unify the industry and we’ve taken the decision to allow anyone to SIGN UP FOR FREE from your organisation to listen live, ask questions and participate.
To confirm your place, you can write to firstname.lastname@example.org or register online-https://events.marketsandmarkets.com/marketsandmarkets-digital-event-on-orphan-drugs-and-rare-diseases/
We are grasping the opportunity of a digital delivery format to in order to bring participants the combination of:
Expanded depth of content – including live streaming, KOL interviews, innovation showcase, business workshops and more
Enhanced connectivity – all participants will be able to view and contact others, post questions and profiles, arrange 1-2-1 tele-meetings and keep abreast of all the latest event updates
Engineered value proposition – including accessible delegate rates from £90 with extended access to the recorded sessions and networking opportunities whilst budgets, time and networking opportunities are constrained. Competitive sponsorship opportunities from £1,000 also available.
ON Helix is fully committed to bring the insights and connections needed to understand innovation in translational research and support R&D companies in their current and future therapeutic and technology developments.
A comprehensive programme set out in a hub and spoke model of content. A core Keynote Programme with a mix of live streamed and pre-recorded insights from leading innovators and leaders combined with parallel pre-recorded streams focussing on company showcasing, senior executing interviews, international sessions, business workshops and learning & development.
Click on each session button below to see full details that will be available to all registered delegates only via the event app.
This webinar will introduce Medics 4 Rare Diseases whose mission is to drive an attitude change towards rare diseases amongst medical students and doctors in training. In addition Lucy McKay, CEO of Medics 4 Rare Diseases and Gavin Jones, Director of Rare Disease, will be discussing core educational principles required to deliver better patient experience and outcomes for those living with rare diseases.
Keith McArthur is one of the parents re-writing the rules for research in rare disease. Keith is CEO of the CureGRIN foundation, a non-profit backed by the Chan-Zuckerberg Initiative. Keith and his co-founder Denise Rehner believe that patients hold the power to accelerate research and drive progress, and that a cure for GRIN Disorders is possible.
Keith is also the host of the podcast Unlocking Bryson’s Brain, an award-winning podcast covering the Keith and Laura McArthur’s search for the key that could unlock their son Bryson’s brain. Over 8 episodes, the podcast covers, Bryson’s birth and diagnosis, gene editing technology like CRISPR, creating a mouse model of Bryson’s disease, and a ‘pilgrimage’ to Boston – the global epicentre of biotechnology and rare disease research.
In this live podcast, you will have a chance to ask Keith your questions about rare disease life, research, and the future of patient-powered research.
Join this information session to learn more about our research and how we work with our partners across the Cambridge Biomedical Campus to turn our scientific discoveries into new ways to diagnose, treat and prevent health care conditions.
Patients and members of the public have an important role to play in the research that we do, and this session will also look at how you can help make our research even better by getting involved.
Get free tickets here https://www.eventbrite.co.uk/e/getting-involved-in-health-research-at-nihr-cambridge-brc-tickets-1072007964
Recognising there is considerable anxiety around the return to school, we have invited Megan Marks (Senior Clinical Psychologist) and Phoebe Dacre (Assistant Psychologist) to our Coffee and Share event on the 23rd July at 2pm BST.
They are providing guidance and coping strategies on anxiety and how to deal with the feelings around reintegrating into schools in September.
Please do join us to discuss your concerns. https://us02web.zoom.us/j/88344459664
World Without GNE Myopathy Conference – 25 July 2020
World Without GNE Myopathy (WWGM)’s third edition of its annual conference that brings together patients, scientists and doctors in the GNE myopathy community. GNE myopathy is a rare and debilitating condition that causes progressive disability in young adults. There is no cure for this disease. It affects approximately 6 in 1 million people.
This event will take place online making it accessible to all
The conference will discuss WWGM’s scientific efforts towards bringing about a treatment for GNE myopathy.
The second half of the conference will discuss patient-related issues and will have a patient sharing session.
To register please email email@example.com. To learn more about WWGM please visit www.gne-myopathy.org.
On behalf of the operating committee, we are pleased to announce that the Global Congress on Rare Diseases and Orphan Drugs will be held during August 19-20, 2020 in Boston, USA. Rare Diseases Congress 2020 provides a head interdisciplinary stage for analysts to introduce the most recent research discoveries and portray developing advances, and bearings in uncommon illnesses and vagrant medications issues. The event attempts to contribute to presenting novel research results in all aspects of Rare Diseases and Orphan Drugs.
Rare Diseases Congress 2020 provides a platform for scientists, professors, specialists, researchers, students and practitioners to present their latest research results, ideas, developments, and applications in all areas of rare diseases and orphan drugs. The meeting will unite driving scholastic researchers, scientists, Industrial agents Healthcare Professionals and researchers in the space of enthusiasm from around the globe.
The conference aim is to provide a scientific forum for all international prestige scholars across the globe and enable the interactive exchange of knowledge.
In this webinar we will explore developing in vitro models for your rare disease research – from both a patient group and industry perspective.
During the 60-minute session our speakers will discuss the following topics:
– What makes a good in vitro model
– The pros and cons of in vitro model system types
– The use of stem cell-derived models to measure the effectiveness of compounds
– How to initiate collaborations for reprogramming and modelling diseases using stem cells
– Q&A session
We’ll do our best to answer as many questions during the webinar, but please also submit any that you have in advance by emailing them to firstname.lastname@example.org
ICODRDC 2020: 14. International Conference on Orphan Drugs, Rare Diseases and Conditions
The International Research Conference Aims and Objectives
The International Research Conference is a federated organization dedicated to bringing together a significant number of diverse scholarly events for presentation within the conference program. Events will run over a span of time during the conference depending on the number and length of the presentations. With its high quality, it provides an exceptional value for students, academics and industry researchers.
ICODRDC 2020: 14. International Conference on Orphan Drugs, Rare Diseases and Conditions aims to bring together leading academic scientists, researchers and research scholars to exchange and share their experiences and research results on all aspects of Orphan Drugs, Rare Diseases and Conditions. It also provides a premier interdisciplinary platform for researchers, practitioners and educators to present and discuss the most recent innovations, trends, and concerns as well as practical challenges encountered and solutions adopted in the fields of Orphan Drugs, Rare Diseases and Conditions
ICODRDC 2020: International Conference on Orphan Drugs, Rare Diseases and Conditions – Call for Contributions
Prospective authors are kindly encouraged to contribute to and help shape the conference through submissions of their research abstracts, papers and e-posters. Also, high quality research contributions describing original and unpublished results of conceptual, constructive, empirical, experimental, or theoretical work in all areas of Orphan Drugs, Rare Diseases and Conditions are cordially invited for presentation at the conference. The conference solicits contributions of abstracts, papers and e-posters that address themes and topics of the conference, including figures, tables and references of novel research materials.
ICODRDC 2020: International Conference on Orphan Drugs, Rare Diseases and Conditions – Guidelines for Authors
Please ensure your submission meets the conference’s strict guidelines for accepting scholarly papers. Downloadable versions of the check list for Full-Text Papers and Abstract Papers.
ICODRDC 2020 has teamed up with the Special Journal Issue on Orphan Drugs, Rare Diseases and Conditions. A number of selected high-impact full text papers will also be considered for the special journal issues. All submitted papers will have the opportunity to be considered for this Special Journal Issue. The paper selection will be carried out during the peer review process as well as at the conference presentation stage. Submitted papers must not be under consideration by any other journal or publication. The final decision for paper selection will be made based on peer review reports by the Guest Editors and the Editor-in-Chief jointly. Selected full-text papers will be published online free of charge.
Conference Sponsor and Exhibitor Opportunities
The Conference offers the opportunity to become a conference sponsor or exhibitor. To participate as a sponsor or exhibitor, please download and complete the Conference Sponsorship Request Form.
Aparito: Digital Endpoints Patient Group Accelerator Programme
Through the launch of the Aparito Digital Endpoints Patient Group Accelerator programme we are hoping to address the high unmet needs of patient communities by co-developing new digital endpoints with patient groups. Utilizing our patient facing mobile application to collect the data, those patient groups selected to join our programme will benefit from a purpose built technology solution.
During the webinar, we will discuss the application process for patient groups who want to apply to our accelerator programme. We will cover the following topics:
> What Aparito parito Digital Endpoints Patient Group Accelerator programme is
>> Why we are running the programme
>> How we are planning on running the program
>> What can patient advocacy groups expect from Aparito and the programme
>> What Aparito expects from the patient advocacy groups that are selected
>> What Aparito and the patient groups selected will gain from the program
We hope you are able to join us to hear more about the exciting programme. If you have any questions please email Dan at email@example.com.
Speaker: Helen Savage DipRCPath, Deputy Head of Clinical Services, Congenica
Realizing the potential of precision medicine relies on accurate and efficient diagnoses. However, even less complex NGS cases can take experts 12 hours to analyze – adding over $500 of costs to every analysis.
Alongside this, 71% of clinical laboratories report that they are nearly or completely at capacity. Increasing case throughput and reducing interpretation time are therefore essential.
In this webinar, Helen Savage DipRCPath, Deputy Head of Clinical Services at Congenica will present how Congenica Automation can now enable complex evidenced genomic data interpretation – including classification, evidence and reporting in as little as 5-minutes.
Join us for this webinar to discover:
How to maximize case throughput using your own curated variant lists
Methods to reliably automate genomic analysis with confidence and transparency
How to interpretate and report a case in as little as 5 minutes.
About our speaker
Helen is a Clinical Scientist with 12 years’ experience working in the NHS and biotech industry. She is skilled in variant interpretation across rare disease and cancer, feeding her clinical experience into Product Management in Congenica, to develop a best-in-class software solution for the analysis and interpretation of genetic data for patients with rare disease.
Powered by My City Med, we’re following up the first ever virtual event for the rare community, The Rare Fair, with the first ever virtual genetics event – The Genetics Summit!
Why a virtual event?
The Genetics Summit will bring together the world’s top physicians, researchers, labs and other resources with non-profits and patients in a 100% virtual environment. Now you can network with your peers and fellow patients without travel constraints and costly registration fees.
We’re currently working on our speaker lineup for the Summit and we believe there’s a large knowledge gap in genetics, particularly in the rare community, between the idea of testing and the application of the results in treatment for patients. We’d like to bridge that gap with The Genetics Summit.
Our theme this year is “Treatment Starts with Testing” and we’ll be exploring how mapping and sequencing can impact physician recommendations when it comes to the treatment of certain diagnoses. You don’t want to miss it!
Why should you attend this virtual event?
For Rare Patients: Meet with the world’s top geneticists, labs, and non-profits, all ready to support you throughout the process, from testing to treatment. We’ll offer a patient education room to walk you through the testing process so you’ll know what to expect if you decide to pursue testing. Not sure what the difference is between WES and WGS testing? We’ll have experts on hand to explain what’s what and how it affects you.
For Researchers: The Genetics Summit is your chance to interact with peers from around the globe, sharing information in poster sessions and roundtable discussions. No travel expenses to justify, no posters to transport, and no costly registration fees. Spend less time traveling and more time interacting with other attendees and building your professional network while sharing your own work and discoveries. *Poster Sessions will be available!
For Labs: The Summit offers unprecedented access to non-profits, researchers, and patients seeking to learn more about testing and how they might benefit from sequencing. This is your opportunity to share your expertise and technology with a highly concentrated pool of interested attendees. *Roundtable Sessions will be available!
For Non-Profits: We’re bringing you the latest in genetics research and technology to help you meet the needs of your disease group. Learn how you can partner with industry leaders to create a registry or offer mapping and sequencing services to your group. *Non-Profit networking sessions will be available!
For Geneticists: Now’s your chance to network with your peers on a global level while building your knowledge base and sharing your expertise. Join us to build your network and learn about new advances while sharing your own experiences.
Interested in sponsoring our event or being an exhibitor?
Our platform enables attendees to facilitate 1:1 meetings at the event via text, video chat, or audio. Attendee profiles are more robust and allow our partners even more ways to increase brand awareness with your chosen audience segment.
Contact us at firstname.lastname@example.org to learn more.
Don’t miss this inaugural event that’s sure to become a must-attend!
Who are My City Med?
Find out here https://mycitymed.com/
Follow their events calendar https://mycitymed.com/events
Speaker: Prof Emmanuel Mignot, Stanford University
Description: Interested in learning about sleep? Prof Mignot is a sleep researcher and director of the Stanford Center for Sleep Sciences and Medicine. He is an authority on sleep research and medicine, and is well-known for his work on narcolepsy. He will be talking to use about Narcolepsy and sleep research on Wednesday 23 September 2020, 17:00 BST, via Zoom. Please visit https://www.internationalsleepcharity.org/ for a free registration link!
In this webinar we will explore the challenges and opportunities associated with rare disease diagnosis – with a focus on ongoing initiatives that are helping accelerate the identification of rare genetic disorders.
We’ll do our best to answer as many questions during the 60-minute session, but please also submit any that you have in advance by emailing them to email@example.com
Orphan Drugs Clinical Trials training will be led by Dr. Simon Day, a prominent trainer with over 30 years expertise in clinical trials, including five years at the UK and European regulatory agencies. Learn from this expert in the area of rare diseases on 8 – 9 October 2020 in London or online.
Dr. Simon Day
CEO, Clinical Trials Consulting & Training
• EMA & FDA consultant, development, regulatory of orphan drugs
• Chairman Advisory Panel, Dept. of Statistics at Oxford University
• Fellow of the Society for Clinical Trials and Former president of the International Society for Clinical Biostatistics
• Associate on the faculty at Johns Hopkins University in Baltimore
• Vice-Chairman of the West London Research Ethics Committee
Graviton International is Europe’s leading Business Intelligence, Knowledge, Flagship Awards & Conference producing organisation for connecting Industry Leaders, C-level executives and Business Professionals to brainstorm, share experience, promote business and partake in exclusive power networking session in a flexible and dynamic platform through our research based flagship events in Pharma / Biotech/ IT/ Dental and Business Meetings with headquarters in London, United Kingdom.
The XLP Research Trust aims to hold a research symposium every two years. The first meeting was in April 2010 and now planning our 2020 symposium immediately after the ESID 2020 conference.
The symposiums look to bring together medical researchers and clinicians from across the world to present their latest research findings on XLP1 and XIAP and to give time to network together. We’re always had great support from the team at UCL Great Ormond Street Institute of Child Health and the Jeffrey Modell Foundation WIN Program in helping make these important events come together.
We’ve found these events to be a brilliant way of building an informal research community and helping to learn from each other.
XLP Symposium 2020
The 6th XLP Symposium will be held on Monday 19th October 2020 in central London. This will be immediately after the ESID conference held in Birmingham.
To attend this important event – please purchase a ticket through our friends at Eventbrite.
We’re now inviting researchers and clinicians to submit proposals for papers for the symposium, please download the 1 page Microsoft Word document from.
Please ensure that you return this document by Friday 26th June 2020.
Fighting Rare Diseases – The Science, Economics and the Patients.
Join us on Friday 23rd October at 3.00 PM BST (10.00 AM EST/7.30 PM IST) for an intriguing o2h ChaiTime 2.8 chaired by Prashant Shah in which we will explore the latest science, the economics, and the role of patients in fighting rare diseases.
Rare disease by definition implies the patient numbers are very small, and therefore the return on investment has historically been challenging. Whilst advocacy groups have always been active in drawing attention to the plight of rare disease patients, a number of scientific & technology advances are changing the economics of advances in rare disease research. In addition, commercial organisations now appear more driven to make social investments that offer even more hope for those suffering from rare disease.
Prashant Shah, Executive Chairman @ o2h group
Tim Guilliams, CEO @ HealxTim – Guilliams is the CEO of Healx and is passionate about using big data & artificial intelligence to accelerate treatments for rare diseases. He obtained his PhD at the University of Cambridge in the field of Biophysics & Neuroscience.
Michael Binks, VP of Rare Disease research @ Pfizer – Michael Binks is a VP of Rare Disease research at Pfizer and is a scientifically focused drug discovery and early clinical development professional. He is a clinical rheumatologist with 20 years’ experience in immuno-inflammation & rare diseases involving small molecules, small protein, monoclonal antibody & AAV gene therapy modalities.
Nicola Miller, Editor in Chief @ Rare Revolution Magazine – Nicola Miller is the editor in Chief of Rare Revolution Magazine which is a voice and a platform for patients’ groups, industry, professionals, clinical & healthcare providers, and charities. She is also a trustee of the teddington trust which offers support & guidance to those affected by Xeroderma Pigmentosum.
In this 45 minute webinar, we will explore patient-driven entrepreneurship – specifically within rare diseases. Meet Rebecca Stewart co-founder and co-creator of Rare Revolution, a digital magazine and community for patients and their families inspired by a desire to have the patient voice heard, connect with the science that could make a difference and debate the issues that really matter to them. We’re also joined by Gavin Jones, Director of Rare Disease at Open Health.
The conversation will cover:
Social entrepreneurship: how being driven by a strong mission and clear values can enable first-time entrepreneurs to achieve impact.
The value of the patient voice and engagement in developing healthcare innovation and wider support for rare disease.
How and why pharma and healthcare companies should collaborate with patients and involve them in crafting better innovation strategies.
And more…(submit your question in advance!)
Informal 30-45 min live Q&A session
• 100% live interactive sessions with no pre-recorded content.
• Experts are primed and ready to answer your questions.
• The webinar is open to a global audience so you can enjoy a diversity of voices contributing to the discussion.
• Get an insight into the entrepreneurial mindset, and the skills required to succeed in the life sciences.
• Meet new people, connect with peers, and learn from the comfort of your armchair/ sofa/deck chair.
Join us for our annual Rare Disease Patient Symposium and Gala for a Cure. Since we can’t connect in person this year, we’re going virtual!
About this Event
Our 5th Patient Symposium will take place on Saturday, December 12th from 10am – 4pm EST, followed by our Gala for a Cure from 7pm – 9pm EST.
Connect with other MPSI, MPS II, MPS IVA, MPSVI, LAL-D, and CLN2 families and patients from across the country. Through a combination of online presentations, panel discussions, and breakout sessions, virtually hear from medical professionals specializing in these rare disorders. We’ll talk advocacy, COVID-19, clinical trials, the latest research, our ever popular “Ask The Docs” session, and have breakout groups with disease specific discussions. And we’ll just catch up and reconnect too!
Dr. Nicola Brunetti (Italy, Gene Therapy), Dr. John Mitchell, Dr. Paul Harmatz, Dr. Emily De Los Reyes, Dr. Brian Biggar, and Dr. Ellen Buck-McFadyen have already signed on to join us for this event and to be on hand to present their latest research and to answer your pressing questions.
For immediate households of a rare disease family, there will be a virtual children’s program, and we will be shipping you dinner ahead of time. Households will also be eligible for child care reimbursement if required (please email us for more information – contact info is below).
Virtual spaces are high in demand, so please register as soon as possible! The registration deadline is November 10th, 2020.
We look forward to seeing you (virtually) on December 12th! We hope you’ll also join us after the Symposium for our 10th annual Gala for a Cure. This festive event will include musical acts, stories, awards, and more, and is open to anyone who would like to watch.
For more information, please connect directly with Andrew McFadyen (firstname.lastname@example.org) or Alexandra Hall (email@example.com). We look forward to welcoming you all!
Join Findacure to celebrate virtual, digital and remote innovation in rare diseases.
About this Event
Findacure’s Rare Disease Showcase Series, now in its fifth year, is a celebration of innovative rare disease projects across the UK.
With the world transformed by a global pandemic, this year’s showcase is, naturally, a little different. Taking place entirely online, our 2020 event – The Virtual Rare Disease Showcase – will illustrate the impact that technological and digital advancements are having on the future of rare disease treatment and care.
Our Virtual Showcase is designed to be a unique event, with interactive sessions taking place over a three-day period, including conversations on telemedicine, artificial intelligence, patient group innovations, and the impact of Covid-19 on rare diseases. Our online stage will include talks from across the rare disease spectrum, supplemented by roundtable discussions, networking sessions, one-to-one video chats, virtual exhibitions and more.
Whilst the format may have changed; crucially, the Rare Disease Showcase remains an event for everyone – whether patient group, clinician, pharmaceutical representative, consultant, researcher, or student – if you care about rare, then this is the event for you!
Join The Telomere Project’s Thrive Tribe for Magic Night featuring Gary Ferrar
benefitting Pulmonary Fibrosis Foundation!
The Telomere Project (TTP) https://thetelomereproject.org/ was set up by three brothers (Erik, Matt and Michael) to address telomere syndromes ~ in particular idiopathic pulmonary fibrosis (IPF) – an irreversible, fatal telomere syndrome which has claimed the lives of several of their family members. In 2014 the brothers lost their father to familial IPF. This genetic disorder had already claimed the lives of their uncle and grandfather.
IPF is an unforgiving disease best characterized as a slow suffocation. One of the challenges of combating IPF is that the disease is very effective. There are no IPF survivors to tell their stories and many may not know they have IPF since IPF can be commonly mistaken for other pulmonary disease. According to the National Institutes of Health, about 100,000 people in the United States have IPF, and approximately 50,000 new cases are found each year. During COVID – 19, the impact on the IPF community has been disproportionate. IPF patients in hospitals are 73% more likely to die than non IPF patients (matched for age, gender, comorbidities).
The Telomere Project is focusing on two efforts 1) raising funds to support projects and programs which are building pathways to treatments and a cure. 2) promoting Thrive Tribe – Thrive Tribe is about seeking joy and cherishing the time we have together. It is about community.
On November 21st at 5:00 pm, Thrive Tribe will be hosting family Magic Night in support of The Pulmonary Fibrosis Foundation. Magic Night guests will be entertained by Gary Ferrar, magician/ mentalist, in this private, virtual performance full of unexpected moments and unique effects. From national television appearances on NBC, Fox News, and USA, to performing for celebrities such as Tom Brokaw, Howard Stern, and Robert De Niro, Gary has been wowing audiences for over a decade. Be prepared for your mind to be blown! This event is suitable for all ages.
Tickets are $25 which admits one Zoom screen. All proceeds will be donated to The Pulmonary Fibrosis Foundation (PFF). PFF is the leading patient advocacy organization of pulmonary fibrosis and are committed to funding research to find effective therapies and, hopefully one day, a cure for IPF. For more information on how your donation will make a difference in the lives of pulmonary fibrosis patients and their families, visit the PFF website: www.pulmonaryfibrosis.org. A Zoom link will be emailed prior to the event. For Magic Night tickets, visit Eventbrite: The Telomere Project’s Thrive Tribe presents Magic Night with Gary Ferrar. If you cannot join us for Magic Night but would like to donate to PFF, follow the Donate Now button below. Your support means so much!
A FREE interactive virtual science, technology and arts event alongside talks and films. For the clued-up and the curious, whatever your age
“Heartwarming, uplifting and informative, the world’s first-ever festival on rare diseases drew huge crowds to the Guildhall over the weekend of November 30 & December 1″ – Cambridge Independent News. Click the link to read the article
SAVE THE DATE for RAREfest20!
Free to attend, RAREfest20 is a full day Cambridge Rare Disease Network virtual festival featuring interactive exhibits and demos showcasing cool science, visionary technology, and pioneering organisations improving lives and bringing hope to those affected by rare diseases. Alongside the exhibition there’ll be inspiring talks from experts and powerful patient voices, rare disease inspired art and films.
Open to patients, families, children, students, scientists, researchers, health professionals, companies, the clued-up and the curious, whatever your age. Everyone’s welcome!
For a sneak peek of what you can expect, head to our RAREfest18 pages brimming with cool companies, scientists, tech experts, health pros, patients and artists who took part in our first RAREfest exhibition. RAREfest20 exhibitor, speaker and film programme will be released later in the year. See the end of this post if you’d like to get involved.
“The event was absolutely fantastic. It was obvious how much hard work had gone into it and gaining the balance between industry and public interest must have been a tough navigation, which was pulled off unbelievably well.” Steve Smith, Head of Rare Diseases & Gene Therapy, Next Phase Recruitment
“Lots of people we’ve spoken to today are passers-by. They’re out doing their Christmas shopping. That’s wonderful because it means the topic is broadening out to the wider community”. Harriet Gridley, No Isolation AV1 Avatar exhibitor
Why rare diseases?
This area of science and medicine has been neglected for too long, a challenge which often seems too overwhelming and difficult to overcome…3.5 million people with over 8000 rare diseases in the UK alone, 350 million worldwide. But things are changing and progress is picking up a pace and we want to celebrate that with you.
Genomics, genome-sequencing, CRISPR, Artificial Intelligence, robots, powerful patient voices and more research is bringing about a sea change in interest, awareness and hope for a brighter future for those affected.
How many rare diseases do you know?
Did you know that although individually rare, collectively rare diseases affect 1 in 17 people, with over 50% affecting children, many of whom have life-limiting conditions? Did you know there are @3.5 million people in the UK living with a rare disease at some point in their lives? And 350 million worldwide?
In the EU, a disease is classed as ‘rare’ when less than 1 in 2000 people suffers from it. There are between 6,000 – 8,000 discovered rare diseases, including more well known diseases such as Motor Neurone Disease (which Stephen Hawking lived with), ALS (of Ice Bucket fame), Cystic Fibrosis, and Huntingdon’s Disease. Around 80% of rare diseases are genetically derived.
What about the other 8000? Can you name any others? Do you have a family member, friend or colleague who is affected? Awareness of rare disease amongst the public and professionals and the support and treatments available to those affected is sorely lacking and without knowledge and understanding it’s more difficult to make progress. RAREfest20 is the only exhibition gathering all stakeholders with the aim of educating, engaging and empowering people to challenge this status quo. Be the change you want to see in the world and join us!
GETTING INVOLVED IN RAREfest20
Do you have a great idea, research project, company or charity that is working to improve understanding, treatments options, accessibility and awareness for those affected by rare diseases? Do you want to get involved in helping create RAREfest20? We’re looking for exhibitors, speakers, films, and volunteers to get involved on all level. Does your company want to support the global rare disease community by helping us bring RAREfest20 to the public? Everyone interested, in whatever capacity, can drop us a line at firstname.lastname@example.org for more information and further discussion. We’d love to have you on board!
Orphan Drugs and Rare Diseases: 2nd Edition Digital Event (GMT)
2nd Edition MarketsandMarkets Digital Event on Orphan Drugs and Rare Diseases scheduled to be held on 3rd -4th December 2020 will provide valuable and necessary platform for uplifting knowledge at the forefront of drug analysis. Over the course of the conference, internationally renowned speakers can describe how their analysis journeys have developed the response towards up to date challenges. The attending specialists and trade partners will offer an incredible networking experience.
This conference will gather scientists, researchers, entrepreneurs, academicians, medical officers, CEO’s, CSO’s and technologists from everywhere around the globe to discuss on the newest scientific advances within the field of rare diseases & orphan drugs that facilitate to form current and future challenges in drug analysis.
We are offering complimentary (FREE) passes to industry experts to take part in in the virtual event and we’d love to have you join us as our guest. To REGISTER FOR FREE, contact Mahvish Anwar at email@example.com
For more information, visit website- https://events.marketsandmarkets.com/marketsandmarkets-digital-event-on-orphan-drug-and-rare-diseases/ or call at +91-9665934572.
Join Wales Gene Park for its sixth annual Rare Disease Patient Network meeting – this year’s event will take place exclusively online
About this Event
We look forward to welcoming you to our 6th annual meeting, bringing members of the Rare Disease Patient Network* together.
Genetic Alliance UK will be launching it’s Quinquennial Patient Experience Report, bringing together the experiences of over 1000 members of our community affected by rare and genetic conditions.
Other invited speakers will discuss how genomics is changing healthcare and share experiences of living with a rare disease during COVID 19.
We will also be joined by Phenotypica and Dr Samuel Chawner who will be hosting an online workshop focused on highlighting the experiences of individuals with genetic conditions through creative engagement.
This virtual event is FREE for anyone within the rare disease community; patients, families, researchers, health professionals and we welcome non-network members to come along to find out more.
Once registered, Zoom details for joining the event will be emailed out to all attendees prior to 10 December along with the full programme. There will also be a lunch break after the morning presentations and ahead of the workshop in the afternoon.
If you have any questions about the event, please contact, Emma Hughes: firstname.lastname@example.org
*Please note you do not have to be a member of the network to attend this event, but you are very welcome to join.
An incomparable event for the entire genomics ecosystem to come together and help shape the future of precision medicine.
50+ Sponsors & Exhibitors
A 100% digital event delivering the world’sfirst truly global genomics experience and vibrant networking formats.
“Woodstock for Genomics” – Hear directly and learn from the rock stars of the industry, plus a commitment to equal gender representation among speakers.
Where the entire genomics and biodata ecosystems come together
The Festival brings healthcare, research, pharma, technology, government, investors, patient groups & others together in a unique, collaborative digital environment.
Covering the entire genomics and biodata life-cycle
The Festival spans everything from sample collection and preparation, through sequencing and genomic data analysis, to the integration of phenotypic and other biodata to make meaningful research and clinical decisions.
The UK’s largest genomics event goes global!
Taking the Festival digital means, for the first time, we can welcome attendees from across the world. The UK’s largest genomics & biodata event is now set to become the world’s largest!
Hear from the Rockstars of Genomics!
This year’s speaker line-up is our best and most diverse ever, featuring incredible case studies and speakers, and a world-beating line-up of keynote speakers. All available on demand after the event.
Registration is free for end users
In line with our social mission, you can participate in the Festival for free if you work in academia, drug discovery/development or healthcare (including NHS workers).
Creating meaningful change for patients
The ultimate focus of the Festival is our social mission: to deliver the benefits of genomics to patients faster. Everything that happens at the Festival is designed to make that happen.
Chief Genomics Officer Massachusetts General Hospital
Founder and Director Scripps Research Translational Institute
Chief Genomics Officer UCSF Health
Dame Sue Hill
Chief Scientific Officer NHS England
Deputy CSO NHS England
Deputy CEO UK BioBank
Director National Human Genome Research Institute
Professor, Department of Genetics Harvard Medical School
CEO National Institute for Health and Care Excellence
Lord Bethell of Romford
Minister of Innovation Department of Health and Social Care
Sir John Bell
Regius Professor of Medicine University of Oxford
Chief Scientist, NASA Human Research Programme NASA