Genomics of Rare Disease: Beyond the Exome

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. There will be discussions on new technologies, including metabolomic approaches. There will also be an extended session on new approaches to therapy and a debate on current ethical issues in genomic medicine.