Genomics of Rare Disease

Image of a DNA double helix
28 March, 2022 - 29 March, 2022

Wellcome Genome Campus, Hinxton, CB10 1RQ, UK


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General Information

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

Wellcome Connecting Science 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 year’s meeting will discuss how the use of diverse genomes can help drive precision medicine and more equitable healthcare benefits. We will 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.

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

Meeting organisers:

Wellcome Connecting Science


Keynote speaker

Helen Firth – Cambridge University Hospitals, 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
Lea Starita – University of Washington, USA

See website for full list