Associate Professor of Medicine,
Harvard Medical School

Chief, Analytic and Translational Unit
Center for Human Genetic Research
Department of Medicine
Massachusetts General Hospital

Senior Associate Member,
The Broad Institure of MIT and Harvard

Mark Daly, Ph.D

Dr. Mark Daly joined MGH Faculty in 2005 as the CHGR was being founded with a goal to develop and implement statistically rigorous genetic and genomic techniques for discovering the genes underlying complex human disease. He has been extremely successful during the past 5 years in both the development of the analytic framework for genomewide association studies and in their implementation. He has led or participated in 40 GWAS publications including leading the International IBD Genetics Consortium in the discovery of 69 new genetic risk factors in the past 5 years. The success of this IBD work has advanced to partnership with Ramnik Xavier (GI Unit & CCIB) to explore the functional consequence of disease mutation in many of these genes, including high profile papers on ATG16L1, IRGM and, most recently has focused on rarer DNA variation following Mark's labs discoveries in NOD2 and CARD9 using next-generation sequencing technologies.

Dr. Daly has also developed a strong presence in the international autism and schizophrenia research arenas. His lab leads the analysis team for the international Psychiatric Genomics Consortium which recently published a landmark finding of 7 genes for schizophrenia and in autism, his lab, in collaboration with the Gusella lab and many other Boston-area Autism Consortium participants, published seminal work in NEJM discovering the strong contribution of 16p11.2 microdeletion and microduplication to autism risk, as well as a later GWAS study in Nature. More recently he has led the largest autism exome sequencing study to date and is beginning to leverage that data in a number of different ways in gene discovery.

Dr. Daly has been cited several times by Thomsen/ISI as one of the top 10 most cited scientific authors and in 2010 was named the founding chief of the Analytic and Translational Genetics Unit at MGH, dedicated to developing techniques for the rigorous interpretation of genome sequence information and the translation of that data into actionable tools for clinical decision making. He is in the process of building a faculty of five world-class analytic genetics investigators to tackle these challenges who will partner with the CHGR going forward.

Center for Human Genetic Research
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