Advances in genetics and genomics have begun to deliver on their promise to expand our understanding of nervous system function in health and disease. One of the interesting challenges that perhaps paradoxically has emerged from these successes is an understanding of the profound genetic heterogeneity and complexity of most nervous system disorders. For example in Autism Spectrum Disorder (ASD), over a hundred of probable risk loci have been identified, none of which account for more than 1% of cases. This has led to what we consider to be a central question highly relevant to precision health approaches: will we have to treat each rare genetic form as a unique condition, or will there be convergence on a smaller number of shared pathways? I will highlight advances in the genetics of ASD and discuss integrative genomic approaches such as genome-wide transcriptional profiling that inform this important issue and that do suggest a substantial level of convergence. These studies provide a quantitative framework for functional investigation of disease mechanisms with a goal of accelerating therapeutic development.
October 10, 2018 -
10:30am to 11:30am
Dan Geschwind; hosted by Yong-Hui Jiang