We are pleased to announce the tenth in our series of meetings on rare diseases. 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.