RCPCH 2020: Rare diseases in children – Collaborating and innovating for rapid progress

RCPCH Conference April 2020

RCPCH – Rare diseases in children: Collaborating and innovating for rapid progress – Symposium

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.
Cambridge Rare Disease Network - Events 1
Date:  – 
Time:  – 
Location

AAC Liverpool
King’s Dock, Port of Liverpool
Kings Dock Street
Liverpool
L3 4FP
United Kingdom

Spaces available

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.

More about RCPCH Conference and how to register

RCPCH Rare Disease: Session overview

The British Paediatric Surveillance Unit in collaboration with Medics 4 Rare DiseasesCambridge Rare Disease NetworkFindacure and Rare Revolution Magazine present this half-day symposium at the RCPCH annual conference 2020.

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

Downloads

CRDN’s RAREfest20 Exhibition

RAREfest20

A FREE interactive science, technology and arts exhibition alongside talks and films. For the clued-up and the curious, whatever your age

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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 festival featuring interactive hands-on exhibits 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.

The RAREfest20 exhibition

is the second day of a 2 day festival which aims to provide a window into this relatively unknown area of science and to spark and quench curiosity. Join us at the Cambridge Guildhall, centrally located right on the market square. Open to patients, families, children, students, scientists, researchers, health profressionals, companies, the clued-up and the curious, whatever your age. Everyone’s welcome!

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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. 

RAREfest18 – the highlights

RAREfest18 100% more interested in rare disease imageThe 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 seemingly 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 profressionals 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 info@camraredisease.org for more information and further discussion. We’d love to have you on board!

Rare Disease Pint of Science: Treasure your exceptions! May 2018

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

Patrick Short (PhD Student, Wellcome Trust PhD in Mathematical Genomics and Medicine)
 @patrick_j_short
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

Dr Jagtar Singh Nijjar(NIHR Clinical Lecturer in Rheumatology at the University of Cambridge)
 @JagtarNijjar
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. 

Their Missions

  • 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.

 Visions

  • 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.

 

History

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!

Locations and topics

full list of Pint of Science cities and countries can be found on our locations page. Our events broadly fall into the following topics:

  • Beautiful Mind – neuroscience, psychology and psychiatry
  • Atoms to Galaxies – physics, chemistry, maths, astronomy
  • Our Body – medicine, human biology, health
  • Planet Earth – geosciences, plant sciences, zoology
  • Tech Me Out – biotechnology, robotics, computers
  • Our Society – law, history, politics, policy, languages
  • Creative Reactions – art and science come together – click here for more info.

And in Cambridge there are speila topics RARE DISEASE and IMMUNOLOGY

 

Pint of Science 18: Researching the rare to understand and treat the common

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/

Cambridge Rare Disease Network
Find a cure

Can we turn back the clock on rare premature ageing diseases?

HealxDr Delphine Larrieu (Group Leader at Cambridge Institute of Medical Research)

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.
...

Everybody Hurts Sometimes…or do they?

Dr Mike Nahorski (Cambridge Institute for Medical Research)
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.
...

Creative Reactions

Elizabeth Fraser (Printmaking/graphic design)
Eri Ikuno (Illustrator)
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.
...

Rare Disease Day Cambridge Lecture: CRDN & NIHR Bioresource

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.

FAQs

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?

Please contact Georgina Norris via email: gan23@medschl.cam.ac.uk alternatively Tel: 01223 254608

 

 

  • Kathryn Baker

    Kathryn Baker

    Student at the University of Northampton. Kathryn has Scimitar Syndrome which affects approximately 1 person in 100,000

  • Professor Patrick Chinnery

    Professor Patrick Chinnery

    Co-Chair for NIHR Rare Diseases Translational Research Collaboration. Clinical Neurologist & Wellcome Trust Senior Fellow

  • Karen Harrison

    Karen Harrison

    Endocrine Project Manager for ALD LIFE. Karen is a carrier of ALD and parent to two affected sons, one who died aged 8.

  • Professor Stephen Jackson

    Professor Stephen Jackson

    Cambridge University Professor of Biology, Head of Cancer Research UK Laboratories at Gurdon Institute

  • Dr Nick Sireau

    Dr Nick Sireau

    CEO of AKU Society, has two sons affected by Black Bone Disease. Chairman of Findacure & member of Eurordis board of Directors

CRDN & NIHR Bioresource: Rare Disease Day Cambridge Lecture

An evening jointly hosted by the NIHR BioResource for Translational Research and Cambridge Rare Disease Network

Doors open at 5.30pm. Talks are between 6.00pm and 7.30pm, followed by a drinks reception until 8.00pm.


The evening highlights Rare Disease Day and Rare Disease Research

Are you interested in Rare Disease research?

Do you want to find out more about the research taking place in Cambridge in the field of Rare Disease?

If the answer is yes then this evening lecture and networking opportunity will be of interest to you.

It will Include:

  • Hearing from speakers involved in rare disease research
  • A Q&A session with all the speakers
  • Connecting with other patients and carers
  • Meet organisations and industry with an interested in rare diseases
  • Refreshments will be provided before and after the lecture

With representatives from Rare Disease community, patients, charities and researchers the evening offers fantastic opportunities for networking and information sharing.


Speakers Include

Chair: Professor Patrick Chinnery, NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge

Dr Jagtar Singh Nijjar, NIHR Clinical Lecturer Lecture in Rheumatology, University of Cambridge ‘Improving patient health care in CNO and SAPHO’

Dr Isabelle Delon, PhD, Clinical Scientist, EMEE Genomic Laboratory Next Generation Children Project which 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’

Q&A Facilitator: Dr Gemma Chandratillake, Course Director, ICE Genomic Medicine Programme, CRDN Trustee

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’.


FAQs

What are my transport/parking options for getting to and from the event?

Getting to the Clinical School Map and Directions

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.

By Bus

Cambridge Biomedical campus is well connected from the city and nearby villages by bus. There are lots of buses to the campus (Bus A and Bus U stops close to the venue near Outpatients). For details visit http://www.cuh.nhs.uk/corporate-information/finding-us/public-transport

By Bicycle

There is parking for bicycles across from the Clinical School’s entrance and the outpatient area.

Where can I contact the organiser with any questions?

Please contact Georgina Norris via email: gan23@medschl.cam.ac.uk alternatively Tel: 01223 254608 or Jo Balfour via email: jo@camraredisease.org

Wellcome Genome Campus guided tour and talk

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.


Details 

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

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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.

FAQs

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?

Email jo@camraredisease.org

Rare Disease Innovation and Collaboration: CRDN at Health Horizons

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?

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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.

FAQs

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?

Email jo@camraredisease.org

Do I have to bring my printed ticket to the event?

Just bring your Eventbrite ticket email or give your name on the door.

Can I update my registration information?

Yes

Is my registration fee or ticket transferrable?

Yes

Is it ok if the name on my ticket or registration doesn’t match the person who attends?

Yes. Please transfer the ticket to another name via Eventbrite if you are unable to attend

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