Start Date: 13/04/2016

End Date: 15/04/2016

Cost: tbc

Venue: Wellcome Genome Campus, Hinxton. Cambridge, UK


Wellcome Genome Campus Advanced Courses & Scientific Conferences

Contact Details:

Wellcome Genome Campus Scientific Conferences
Hinxton, Cambridge
CB10 1RQ, UK
T +44 (0)1223 495100


Genomics of Rare Disease: Beyond the Exome will present an exciting blend of genomic science and clinical medicine. This conference provides an excellent forum for clinicians and scientists interested in human genomic variation and the mechanisms by which it exerts its phenotypic effects. 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 programme committee Han Brunner Radboud University Nijmegen Medical Centre, The Netherlands Kym Boycott University of Ottawa, Canada Helen Firth University of Cambridge, UK Matthew Hurles Wellcome Trust Sanger Institute, UK Jay Shendure University of Washington, USA Scientific sessions Monogenic meets polygenic disease Modifiers of rare disease Metabolomics New technology Matchmaking exomes: the lonely variant Approaches to therapy Ethical and policy issues in genomic medicine For further information: