Genomic Disorders 2014: The Genomics of Rare Diseases

The 8th Wellcome Trust Genomic Disorders conference will present an exciting blend of genomic science and clinical medicine. This meeting will bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects.

Genomic Disorders 2014 will discuss the latest findings on the genomic basis of rare disorders as these can provide such powerful insights into human biology. Genome-wide analyses, including array Comparative Genomic Hybridization (aCGH) and Whole Exome Sequencing (WES), have been invaluable in discovering the genetic basis of rare disorders and illustrate the heuristic power of humans as a pioneering organism rather than just another model organism. The meeting will focus on how human genome analysis can best assist future clinical practice and patient care. A particular emphasis of this year’s meeting will be on genomics in reproductive medicine, modelling rare disorders in animal models and cells, and interpreting genomic variants in rare diseases.