Mark Daly

Biography
Mark Daly is the founding Chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and is an assistant professor at Harvard Medical School. His research focuses on statistical and computational methods to discover and interpret genetic variation in complex disease, and on bringing genome information into clinical settings. He is also an Institute Member and Co-Director of the Program in Medical and Population Genetics at the Broad Institute, where he leads major sequencing studies in autism and inflammatory bowel disease. His group has major research efforts in neuropsychiatric genetics, particularly autism, schizophrenia, and ADHD, and has led many large GWAS and exome studies. His lab serves as an analytic hub for the Psychiatric GWAS Consortium. He has also led gene mapping in Crohns disease and ulcerative colitis. Daly served as Director of the Institute of Molecular Medicine Finland (FIMM) and received degrees from MIT and Leiden University.

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Talk
Biobanks and the road ahead in human genetics
In the 20 years since the completion of the first human genome, the ability to decode the inherited basis of disease has developed rapidly. Efforts to date have uncovered tens of thousands of genetic variants affecting human disease - from rare Mendelian conditions to cancer to common, chronic diseases in nearly all clinical domains. While this work has taken another leap forward with the introduction of large-scale biobanks such as UK Biobank, FinnGen and All Of Us, it is becoming clear that while variant discovery might be considered a solved problem, our ability to define disease mechanisms and paths to therapeutic remediation from such discoveries is badly lacking. Here we will discuss the challenges to that progress and the potential of new scalable technologies to help accelerate the path from discovery to actionable understanding of mechanism required to ultimately help patients