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 Speaker Profile

PMWC LUMINARY AWARD
Led GWAS/population genetics that mapped disease genes at scale

Ph.D., Co-Director, Broad Inst.

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.


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


 Session Abstract – PMWC 2026 Silicon Valley

Track 3 - March 5 9.00 A.M.-4.45 P.M.


Track Chair: TBA

PMWC Award Ceremony Honorees
• Mark Daly, Broad Institute
• Daniel MacArthur, CPG/Genomes/gnomAD
• Gordon Sanghera, Oxford Nanopore
• Howard J. Jacob, Abbvie

The Data Factory: Building Systems to Integrate Millions of Genomes for Variant Interpretation
• Chair: Stephen B. Montgomery, Stanford
• Carlos D. Bustamante, University of Oklahoma
• Mark Daly, Broad Institute/FinnGen
• Manuel Rivas, Stanford
• Mark McCarthy, Genentech
• Nilah Ioannidis, UC Berkeley

Biobanks to Bedside: Cutting VUS in Cancer, Cardio & Rare—What’s Working Now
• Chair: Ben Neale, Broad Institute
• Daniel MacArthur, CPG/Genomes/gnomAD

Beyond the Read: Integrating Long-Read Data into the Clinical Variant Pipeline
• Chair: Gordon Sanghera, Oxford Nanopore Technologies
• Hanlee P. Ji, Stanford

DNA to FDA: How Genetic Targets Win Labels & Coverage
• Russ B. Altman, Stanford

Common Diseases in Clinical Cohorts – Not Always What They Seem
• Howard J. Jacob, Abbvie

DNA to FDA: How Genetic Targets Win Labels & Coverage
• Chair: Razelle Kurzrock, Medical College of Wisconsin
• Russ B. Altman, Stanford

25+ Years of the Human Genome — What Made It to the Bedside
• Chair: Ralph Snyderman, Duke
• J. Craig Venter, Craig Venter Institute (JCVI)
• Brook Byers, KPCB
• Lee Hood, Phenome Health

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