Genomics of Rare Diseases (Virtual Meeting)

A visual representation of DNA double helix
25 March, 2020 - 27 March, 2020

Wellcome Genome Campus, Hinxton, CB10 1RQ, UK

General Information

Due to the evolving situation with COVID-19, this conference will take place as a virtual meeting – details will be sent to all attendees.

We are pleased to announce the 14th in our series of meetings on rare diseases, 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.

For more information and to register please visit the event webpage.

  • Early bird deadline 07 January 2020
  • Bursary deadline 14 January 2020
  • Abstract deadline 28 January 2020
  • Registration deadline 25 February 2020

Meeting organisers:


Keynote speaker
Mark Daly -Institute for Molecular Medicine, Finland

Confirmed speakers
Connie Bezzina –  University of Amsterdam, The Netherlands
Guillaume Canaud – Necker Enfants Paris, France
Rob Collin – Radboudumc University Medical Center, The Netherlands
Tamar Harel – Hadassah-Hebrew University Medical Center, Israel
Sebastian Kury – University of Nantes, France
Anna Lindstrand – Karolinska Institutet, Sweden
Anne O’Donnell-Luria – The Broad Institute, USA
Cecilia Poli Harlowe – Universidad del Desarrollo, Chile
Damian Smedley – Genomics England,  UK
Lea Starita – University of Washington, USA
Clare Turnbull – Genomics England/The Institute of Cancer Research, UK
Nan Wu – Peking Union Medical College, China