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Penn Bioinformatics Forum – Jeff Barrett, PhD
January 25 @ 3:00 pm - 4:00 pm
Expanding the genetic architecture of neurodevelopment and autism
Dr. Jeff Barrett
Director, Open Targets
Wellcome Trust Sanger Institute
Recent advances in scale and speed of DNA sequencing have transformed our understanding of a range of neurodevelopmental disorders, from autism spectrum disorders to profound intellectual disability with a wide range of physical comorbidities. I will describe two efforts that are beginning to shed light on the differences and similarities of genetic architecture across these disorders. The Deciphering Developmental Disorders study has sequenced the exomes of 10,000 individuals (and their parents) with severe developmental disorders recruited from around UK. I will describe how we have applied a “genotype first” approach to discover new de novo dominant disease genes, estimate the burden of recessive causation, and begin to understand the contribution of non-coding de novo mutations to these disorders. I will then compare these results to similar efforts coordinated by the Autism Sequencing Consortium to explore how many of the same genes have been implicated in ASD as well. Finally, I will describe GWAS analyses in these cohorts, which are showing how common variation contributes to the risk of these disorders which have traditionally been viewed through a Mendelian lens.
Reception to follow.