No Isolation AV1 Forum | East of England

No Isolation AV1 Forum | East of England

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.

Essex Council

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.

About AV1

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

17th Annual Anglonordic Life Science Conference

17th Annual Anglonordic Life Science Conference

Anglonordic is the only life science conference in the UK that is exclusively for European investors and R&D companies from the Nordics and the UK to connect with each other. With an established format of panel discussions, parallel technology and biotech investment rooms, plus 1:1 meetings, this one and a half day London conference provides exceptional value. Networking begins on the evening before the conference at an exclusive reception at The Danish Ambassador’s Residence in London. Investors with funds attend the conference free-of-charge.

The Anglonordic Life Science Conference has a “by-invitation-only” policy. The organisers welcome a limited number of service suppliers as sponsors or exhibitors.

Why attend Anglonordic Life Sciences  Conference?

MEET decision makers at leading and upcoming drug discovery and technology companies from the UK and Nordic regions, along with investment firms from throughout Europe

LEARN from major investment firms about the current status of European investment in life science technologies

GAIN insights from experienced life science operators within the Anglo-Nordic space

For more info and tickets

“Rare Diseases, Leaving no one Behind” – a rare photo expo honouring life with a rare disease

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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

Opening Ceremony – Speakers

  • 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 25 February 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.

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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.

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EURORDIS Annual General Assembly 2020

EURORDIS Annual General Assembly 2020

Update regarding EURORDIS events / COVID-19

EURORDIS-Rare Diseases Europe has been closely monitoring the international situation related to COVID-19 since the World Health Organisation declared the outbreak a Public Health Emergency of International concern. As organisers of the European Conference for Rare Diseases and Orphan Products, bringing together close to 1000 attendees from over 30 countries, we prioritize and care about the health and well-being of our attendees.

We currently do not intend to postpone or cancel the on-site event in Stockholm.

We continue to closely monitor this fast-evolving situation, referring to the following official information sources:

We take this opportunity to provide this link to the WHO’s advice to the public of basic measures against the new coronavirus.

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.


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about the latest advances, challenges, facts, figures and trends in the field of rare diseases with over 100 expert speakers.

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of rare diseases alongside patient advocates, policy-makers, healthcare industry representatives, clinicians, payers, regulators and Member State representatives.

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to all stakeholders of the rare disease community.

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Organised by:

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Co-organised by:


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With the support of

AFM logo

EU funding logo

UK Pharmacogenetics & Stratified Medicine Network Open Meeting 2020

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

For more information on the UK PGx Network, please click the link below to visit our website.

Attendee Category Cost
01 Non-commercial partners (academics, clinicians etc.) Full Rate £100.00 [Read More]
02 Commercial (industry) Full Rate £250.00 [Read More]
Exhibitor (£1800 + VAT) £2160.00 [Read More]

University of Liverpool

Integrating Genomics into Nursing Practice & Education 2020

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
  • International genomic nursing competencies, genomic integration assessment tool (ASIGN), and the G2NA implementation roadmap

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
  • Genomic implementation
  • Exemplars in genomic practice integration
  • Genomic education
  • 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

Scientific programme committee

Kathleen Calzone

Kathleen Calzone
National Cancer Institute, USA

Sek Ying Chair

Sek Ying Chair
The Nethersole School of Nursing, Hong Kong, China

Emma Tonkin

Emma Tonkin
University of South Wales, UK

Erika Maria Santos

Erika Maria Santos
Hospital Sírio-Libanês, Brazil

Memnun Seven

Memnun Seven
University of Massachusetts Amherst, USA

Keynote speaker

Christine Patch

Christine Patch
Genomics England, UK

Confirmed speakers

Laurie Badzek – Penn State University, USA
Patricia Brennan – Samuel Merritt University, USA
Kathleen Calzone – National Cancer Institute, USA
Sek Ying Chair – The Chinese University of Hong Kong, China
Martina Cornel – Dutch National Patient Alliance for Rare & Genetic Diseases, The Netherlands
Julie Eggert – Nurse Portfolio Credentialing Commission, USA
Greg Feero – Maine-Dartmouth Family Medicine Residency, USA
Candace Henley –  Blue Hat Foundation, USA
Leigh Jackson – Exeter University, UK
Jane Maguire – University of Technology Sydney, Australia
Vicky Nembaware – African Genomic Medicine Training Initiative,  South Africa
Mark Radford – Health Education England, UK
Janice Sigsworth – Imperial College Healthcare, UK
Emma Tonkin – University of South Wales, UK

Scientific Conferences Team

Jemma Hume– Conference & Events Organiser
Treasa Creavin – Scientific Programme Manager

    Early bird discount
(until 4 February)

Standard rate
(after 4 February)
Student/Trainee No accommodation £286.00 £386.00
Student/Trainee On-site twin accommodation £393.00 £493.00
Student/Trainee On-site single accommodation £459.00 £559.00
Academic/Nurse No accommodation £386.00 £486.00
Academic/Nurse On-site twin accommodation £493.00 £593.00
Academic/Nurse On-site single accommodation £559.00 £569.00
Commercial No accommodation £486.00 £586.00
Commercial On-site twin accommodation £593.00 £693.00
Commercial On-site single accommodation £659.00 £759.00

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 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:

Accommodation services phishing scam – please be vigilant. More 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)
  • CV
  • 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.

Bursary deadline: 18 February 2020

Additional funding opportunities
Visit our support page for additional financial support currently available.


If you are interested in supporting or exhibiting at this meeting, please contact the conference organiser.

Genetic Analysis of Mendelian and Complex Disorders 2020

Genetic Analysis of Mendelian and Complex Disorders 2020


Learn state-of-the-art statistical analysis techniques for genetic data collected on related and unrelated individuals


This intensive, residential, computational course is aimed at scientists actively involved in genetic analysis of either rare (Mendelian) or complex human traits who anticipate using state-of-the-art statistical analysis techniques on genetic data collected on related and unrelated individuals.The programme provides a comprehensive overview of the statistical methods currently used to map disease susceptibility genes in humans and non-model organisms with an emphasis on data collected on families or populations (which should often be considered a collection of large families).

This is a small residential course, with a low student to instructor ratio, personalized attention, and the instructors actively involved throughout the week. Students present on their own research to the group and receive constructive criticism particularly pertaining to study design and analysis. This course is unique among statistical genetics courses in that it concentrates on approaches that capitalize on families or a combination of families and unrelated individuals in the post-GWAS era.

Why does this course emphasize family data?

In the GWAS and post-GWAS era, gene mapping has concentrated on analysis of unrelated individuals due to simplicity and convenience. However, these approaches tend to treat any relatedness among individuals as a nuisance to be adjusted away rather than a benefit to be exploited. Furthermore, researchers are increasingly aware that the use of unrelated individuals has limitations that family data can overcome. Family studies have many advantages in gene mapping:

  1. They are extremely powerful in situations where unrelated individuals lack power (e.g., when rare variants underlie the aetiology) since related affecteds are more likely to share the same disease predisposing gene than unrelated affecteds.
  2. They overcome confounding factors such as population stratification and allow better modelling of environmental factors.
  3. They allow the examination of a wealth of nuanced genetic models.
  4. They provide ways to rule out artefacts and false associations that can plague genetic analyses. This course will enable participants to make better use of their data that may include related individuals.

During this course, discussions of the latest statistical methodology are complemented by practical hands-on computer exercises using state-of-the-art software. The statistical principles behind each method will be carefully explained so that participants with a non-statistical background can understand and better interpret their results. Note, however, that the bioinformatics pipelines for calling variants from next generation sequencing data are not covered; the focus of this course is on the downstream analysis of the called variants.

Target audience
This course is aimed primarily at advanced Ph.D. students and post-docs who are early in their careers, whose projects involve data that could be analysed by the methods covered in this course. Since we emphasize methods for handling family data, there is a preference for candidates who have some family data or who are likely to have access to family data in the near future. Programming experience is not required, but candidates without prior experience with the Unix/Linux/Mac command line will be expected to read through a tutorial on this topic prior to the course.


The programme will discuss fundamental issues needed to increase success in gene mapping studies including:

1. Why families?

  • Contrasting family and population study designs
  • Practical aspects of collecting family data

2. Association analysis in samples of unrelated and related individuals

  • Linear mixed models (LMM, aka variance components)

3. Linkage analysis as an effective tool for gene mapping in the post-GWAS era
4. Quality control strategies

  • When only using unrelateds
  • When families are included

5. Using families in order to move beyond simple genetic models
6. Haplotyping using GWAS and sequencing data
7. Analysis of rare traits using sequencing data from families
8. Risk prediction, meta-analysis, and other post-GWAS analyses using families

Teaching will take the form of lectures by invited expert speakers, informal tutorials, hands-on computer sessions, and analysis of example disease data sets. Our interactive and intensive educational programme will enable researchers to better carry out sophisticated statistical analyses of genetic data, and will also improve their interpretation and understanding of the results. All the software used is freely available, so that skills learned can be easily applied after the course. After the course, participants will be provided with a virtual machine copy of the computer used during the course, so that back at their home institutions they can easily explore the computer exercises and example data sets in greater detail.

To ensure that participants get personalized constructive advice, particularly pertaining to the study design and analysis plan for their own research, each participant will give a short presentation about his or her own research project, either planned or in progress.

Learning outcomes
On completion of the course, participants can expect to:

  • Understand the use of family and population data in genetic analyses and determine in what ways family data would be useful in their own research projects.
  • Have a deeper understanding of optimal study design and power, and to be able to critically evaluate the design and power of their own research projects.
  • Understand current best statistical approaches, and under which conditions their use is appropriate or inappropriate, and thus determine the most suitable statistical methods for their own research projects.
  • Be able to use current software to analyse real family and population data and to interpret the results, including quality control, association and linkage testing, and fine mapping approaches.
Course instructors
Dan Weeks (Course Organiser)

Dan Weeks (Course Organiser)
University of Pittsburgh, USA

Heather Cordell

Heather Cordell
Institute of Genetic Medicine, Newcastle University, UK

Simon Heath

Simon Heath
Centre Nacional d’Anàlisi Genòmica (CNAG), Spain

Janet Sinsheimer

Janet Sinsheimer
University of California, Los Angeles, USA

Eric Sobel

Eric Sobel
University of California, Los Angeles, USA

Joe Terwilliger

Joe Terwilliger
Columbia University, New York, USA

Guest Instructors

Najaf Amin

Najaf Amin
Erasmus Medical Centre, Rotterdam, The Netherlands

Bogdan Pasaniuc

Bogdan Pasaniuc
University of California, Los Angeles, USA

Guest speakers

Sara Brown

Sara Brown
University of Dundee, UK

Markus Perola

Markus Perola
University of Helsinki, Finland

Ingo Ruczinski

Ingo Ruczinski
Johns Hopkins University, USA

Cost and bursaries
*Course fee £995 This is a residential course and the fee includes all accommodation and meals.

*The course fee is subsidised by Wellcome Genome Campus Advanced Courses and Scientific Conferences and applies to non-commercial applicants. Please contact us for the commercial fee.

Limited bursaries are available (up to 50% reduction on the course fee) and are awarded on merit. If you would like to apply for a bursary, please complete the bursary section of the online application form.

Where there are many bursary applications, the selection committee may issue smaller amounts.

Bursaries can be applied for as part of the course application form. Applicants will be notified of a bursary award along with their place on the course, usually within one month of the application deadline. The decision of the selection committee is final.

Please note that both the applicant and sponsor are required to provide a justification for the bursary as part of the application.

Additional funding opportunities
Visit our support page for additional financial support currently available.

Accommodation services phishing scam – please be vigilant. More information.

How to apply

Applicants should be advanced Ph.D. students and post-docs who are early in their careers, whose projects involve data that could be analysed by the methods covered in this course. Since we emphasize methods for handling family data, there is a preference for candidates who have some family data or who are likely to have access to family data in the near future. Programming experience is not required, but candidates without prior experience with the Unix/Linux/Mac command line will be expected to read through a tutorial on this topic prior to the course.

How to Apply
Please click the Apply button above to begin the online application process. Places are limited and will be awarded on merit. If you have any problems with the online application process, please contact us.

Please note: Applications must be supported by a recommendation from a scientific or clinical sponsor (e.g. supervisor, line manager or head of department). A request for a supporting statement will be sent to your nominated sponsor automatically during the application process. Applicants must ensure that their sponsor provides this supporting statement by the application deadline. Applications without a supporting statement cannot be considered.

Travel visas
Successful applicants will be provided with a support letter for their visa application, if required.

Please visit the following websites for further information on visiting the UK:


Feedback from the 2019 course:

“This was the most intellectually engaging course and particularly relevant to my research work I ever attended.”

“This is an excellent course covering a wide range of topics and taught by inspirational instructors. I have learnt so much and am now buzzing with new ways I can possibly analyze my data.”

“Fantastic faculty, great staff:student ratio, great invited speakers programme.”

“I came away from this course feeling exhausted and elated at the same time! I have a much firmer grasp on all the topics covered than I had before, and a greater confidence in my own knowledge and ability. Really looking forward to sharing what I have learnt with my colleagues. Thank you for letting me be a part of this experience!”

“The course was excellent.”

“Thank you for all the time and hard work put in by the instructors and speakers – it was a fascinating and inspirational course.”

“Thank you for an excellent course!”

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.
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Date:  – 
Time:  – 

AAC Liverpool
King’s Dock, Port of Liverpool
Kings Dock Street
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


ADPKD Information & Support Day – Oxford

ADPKD Information & Support Day

Hosted by renal consultant, Dr Thomas Connor

At Hawkwell House, Iffley village, Oxford, OX4 4DZ

  • Learn more about ADPKD (Autosomal Dominant Polycystic Kidney Disease) and the latest research
  • Put your questions to the medical experts
  • Share your experiences with others

Free to attend and everyone welcome – patients, families and carers.

Talks on:

  • The Basics of ADPKD
  • Genetics
  • ADPKD and Children
  • Diet and Lifestyle
  • Research
  • Transplantation
  • Psychological impact of chronic disease

Lunch and refreshments included.

There is no charge, but a donation is always welcome.

Phone 0300 111 1234 or email if you have any questions

Cystic Fibrosis: From Gene to Precision Medicines 2020

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.

School Of Physiology, Pharmacology & Neuroscience

Organiser of Cystic Fibrosis: From Gene to Precision Medicines

E-mail: for more information

Book tickets 

Research and Rare Conditions Conference

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

What defines a genetic disease and when might gene therapy be used?

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.

Refreshments available after event.

For tickets head to Eventbrite 

>>How to get to Edinburgh BioQuarter


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