Mark Daly

Biography
Mark Daly is an institute member and co-director of the Program in Medical and Population Genetics at the Broad Institute of MIT and Harvard, where he leads many large-scale genome sequencing studies in autism and inflammatory bowel disease. He is also the founding chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and associate professor at the Harvard Medical School. His research has historically focused on the development and application of statistical methods for the discovery and interpretation of genetic variation responsible for complex human disease, and with the creation of the ATGU, he and other core faculty are focused on the interpretation of genome sequence and the use of genome information in clinical settings.Daly was appointed director of the Institute of Molecular Medicine Finland (FIMM) at the University of Helsinki from February of 2018 through April 2023 while maintaining his lab in Boston. After that, he returned to Boston full-time and now maintains an affiliate position as a researcher at the University of Helsinki. FIMM is a translational research institute focusing on cancer, digital diagnostics, genetics, and epidemiology and is home to landmark efforts such as the FinnGen Project.In addition to developing computational and statistical methods that can be broadly applied, Dalys group has several primary medical genetics research foci. He has an extensive research program in neuropsychiatric genetics particularly in autism, schizophrenia, and ADHD and has led large-scale genome-wide association studies (GWAS) and exome sequencing efforts in this area. Dalys lab and Ben Neale's lab together serve as an analytic hub for the Psychiatric GWAS Consortium, an international consortium leading the largest collaborative GWAS studies in five major psychiatric disorders. Daly also has a longstanding effort in the mapping of genes for Crohns disease and ulcerative colitis, through which he helped found and lead an international effort that has identified more than 150 genetic risk factors and, in collaboration with Ramnik Xaviers group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. Along with Heidi Rehm, he is co-PI of the gnomAD project and is committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.Daly received his B.S. in physics from MIT and his Ph.D. in human genetics from Leiden University, Netherlands.

---

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