Genomics of Rare Disease (Virtual Conference)

28–29 March 2022

Wellcome Genome Campus, UK

Exploring how genomic research translates into clinical care and informs our understanding of the biology of rare disease


We are pleased to announce the 16th in our series of meetings on rare diseases, which will present an exciting blend of genomic science and clinical medicine. This meeting 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 how this is changing clinical practice.

This year’s meeting will discuss how the use of diverse genomes can help drive precision medicine and more equitable healthcare benefits. We will also focus on non-Mendelian forms of rare disease and new approaches to treat rare disease.  We will also discuss how high-throughput functional assays can improve the interpretation of variants and discuss the ongoing challenges and opportunities in implementing genomics in mainstream healthcare systems across the world.

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. We encourage trainees to submit their research for discussion at the conference.


The conference will start at approximately 12.00 on 28 March and close at approximately 18.00 on 29 March 2022. All times are in BST. See the time where you are here.

Topics will include

  • Diverse genomes as drivers of precision medicine
  • Non-Mendelian forms of rare disease
  • Treatment of rare diseases
  • High throughput functional assays to improve variant interpretation

Committee and speakers

Scientific programme committee

Fowzan Alkuraya
King Faisal Specialist Hospital and Research Center, Saudi Arabia

Jennifer Posey
Baylor College of Medicine, USA

Lisenka Vissers
University Medical Centre Nijmegen, The Netherlands

James Ware
Imperial College London, UK

Keynote speaker

Helen Firth
Cambridge University Hospitals Trust, UK

Confirmed speakers

Yasemin Alanay – Acibadem University School of Medicine, Turkey
Saumya Shekhar Jamuar – KK Women’s and Children’s Hospital, Singapore
Jim Lupski – Baylor College of Medicine, USA
Arnold Munnich – INSERM, France
Elizabeth Radford – University of Cambridge, UK
Lea Starita – University of Washington, USA
Hugh Watkins – University of Oxford, UK

Conference organisers - Wellcome Connecting Science

Zoey Willard – Conference & Events Organiser
Treasa Creavin – Scientific Programme Manager

Registration and bursaries

Bursary deadline: 1 February 2022  | Registration deadline: 21 March 2022

Category Registration rate
Delegates from LMIC* Free
Student/trainee £50
Academic/Clinical £100
Commercial/For-profit organisation £150

Registration includes:

  • access to the virtual event portal (Log in details will be emailed a few days before the event starts)
  • live-stream sessions, including posters and online networking channels
  • recordings of the live-stream sessions, available ‘on-demand’ for four weeks after the event ends

*To increase the international diversity of attendees and promote more inclusive scientific discussions at our conferences, delegates based in Lower and Middle-Income Countries can register for free (see list of countries here).

If you are in need of financial support and would like to apply for a bursary, please follow the instructions below.


A limited number of bursaries are available to cover up to 100% of the registration fee.

To apply, please complete your event registration and bursary application via this unique link before the bursary deadline. For your application to be considered and your place reserved, you must also submit the following supporting documents:

  • letter stating financial need and explaining how you will benefit from attending the event
  • brief CV

We will be contact with the result of your application shortly after the bursary deadline.

If you have any questions, please contact the conference organiser.


Abstract deadline: 1 February 2022

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.

All those accepted for a poster presentation will be given the opportunity to upload a short video describing their work

Uploading abstracts after completed registration:

  1. Login to your account via ‘My Account’.
  2. Click on ‘View account history’ to show a table of your event registrations.
  3. Select the appropriate conference
  4. Click on ‘Upload file’ (in right hand column).
  5. Select ‘Abstract’ and upload via the abstract form.
  6. If you wish to upload a second abstract, click on ‘Additional Abstract’ and again upload via the abstract form.

Please note: documents submitted via ‘Supporting Documents’ are for bursary applications only and cannot be seen during the abstract selection process.

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