Genomics of Rare Disease: Beyond the Exome

Thank You And See You Next Year

We would like to thank all the organizations, our sponsors, Exhibitors, visitors and all the supporting staff for making our event an overhelming success with space currently reserved for next year
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The meeting features the latest findings related to the genomic basis of rare diseases, which can provide powerful insights into human biology. As we move beyond exome sequencing to whole genome sequencing, the opportunities and challenges that arise for human genome analysis and clinical practice will also be explored.

This year's meeting will focus on the links between monogenic and polygenic disorders and will explore the various modifiers of rare disease. We will discuss new technologies, including metabolomic approaches. We plan an extended session on new approaches to therapy and will also debate current ethical issues in genomic medicine.

Scientific sessions:
Monogenic meets polygenic disease
Modifiers of rare disease
New technology
Matchmaking exomes: the lonely variant
New approaches to therapy
Ethical and policy issues in genomic medicine

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.

Please get in touch for further information on sponsorship and exhibition packages.


Student rates start from: GBP 289,
Academic rates start from: GBP 389,
Industry rates start from: GBP 489

Speakers: Han Brunner, Kym Boycott, Helen Firth, Matthew Hurles, Jay Shendure, Susan Ackerman, Jessica Chong, Hal Dietz, Jonathan Flint, Ada Hamosh, Steve Jackson, Stanislas Lyonnet, Alex MacKenzie, Steven McCarroll, Jennifer Robinson, Andrew Sharp, Joris Vermeesch, Ron Wevers

Time: 12:30 pm to 3:30 pm
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