Genomics of Rare Disease (Virtual Conference)

22–24 March 2021

Wellcome Genome Campus, UK

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

Course Summary

Owing to the ongoing situation with covid-19, this event will be organised as a virtual conference.

We are pleased to announce the 15th 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 focus on large-scale whole genome sequencing studies that impact on our understanding of rare diseases. There will be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions that interrogate non-coding variation in disease, explore new therapeutic approaches to rare diseases, and discuss the challenges and opportunities in implementing genomics in mainstream healthcare.

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.


The conference will start at approximately 12.30 on 22 March and close at approximately 16.00 on 24 March 2021. All times are given in GMT. See the time where you are here.

Topics will include:

  • What’s new in rare disease?
  • Functional genomics
  • Developmental genetics
  • Non-coding variants in disease
  • Informatics
  • Therapeutic approaches to rare disease
  • Mainstreaming genomics in healthcare

Organisers and speakers

Scientific programme committee

Jennifer Posey
Baylor College of Medicine, USA

Kaitlin Samocha
Wellcome Sanger Institute, UK

Lisenka Vissers
University Medical Centre Nijmegen, The Netherlands

James Ware
Imperial College London, UK

Keynote speaker

Dian Donnai
Manchester Centre for Genomic Medicine, UK

Confirmed speakers

Connie Bezzina – Amsterdam University Medical Center, The Netherlands
Guillaume Canaud – Hôpital Necker Enfants Malades, France
Wendy Chung – Columbia University Irving Medicine Centre, USA
Tomasz Gambin – Warsaw University of Technology, Poland
Alex Hoischen – Radboudumc University, The Netherlands
Helger Ijntema – Radboudumc University, The Netherlands
Heather Mefford – St Jude Children’s Research Hospital, USA
Eric Vallabh Minikel – Broad Institute, USA
Holger Prokisch – German Research Center for Environmental Health, Germany
Christian Schaaf – University of Heidelberg, Germany
Clare Turnbull – Institute of Cancer Research, UK

Scientific Conferences Team

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



Standard Fee
Student £50
Delegates from LMICs* £50
Academic £100
Commercial £150


The virtual registration package includes access to all live-streamed sessions (including poster sessions and online networking channels), as well as access to all sessions ‘on-demand’ for four weeks after the event.

*To increase the international diversity of attendees at our meetings, we have reduced fees for delegates from Lower and Middle Income Countries (see list of countries here) If you are in need of financial support would like to apply for a bursary, please contact the conference organiser. When applying for a bursary you will be asked to provide a letter stating financial need and a CV.

Registration deadline: 15 March 2021

Log in details for the virtual conference portal will be provided on Thursday before the event.


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.

Abstract deadline: 26 January 2021

How to upload an abstract once you have already completed registration:

  1. Log back into your registration account using either Firefox or Internet Explorer as your browser, via link above the ‘Share’ button on the right hand column of this page
  2. Click on ‘Account’ (top right).
  3. Then click on ‘View account history’. This will show a table of your event registrations.
  4. In the right-hand column you will see the option to ‘Upload file’ – click on this and select to upload an abstract.
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