The 7th annual The Genomics of Common Diseases conference is taking place this weekend, from September 7-10, in Keble College, Oxford University. At this conference, we seek to represent a top selection of the latest research characterizing the genetic basis of a range of common diseases. Read more
One of the many remarkable findings of the cancer genome sequencing projects that have been published in this and other journals is the repeated discovery of somatic driver mutations in genes that encode chromatin remodeling factors, which regulate the epigenome. De novo mutations in this same family of genes also cause several developmental syndromes, whose various features all include intellectual disability. Surprisingly, a few de novo mutations in these genes have recently been reported in autism. How do these mutations (which at least in some cases appear to be loss-of-function in both cancer and in the developmental syndromes) in the same class, and in some cases, the same exact genes cause these different diseases? Read more