Mark Daly, PhD

Mark Daly, PhD, is the founding chief of the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and an assistant professor in 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. Mark is also a senior associate member and co-director of the Program in Medical and Population Genetics at the Broad Institute, where he leads many large scale genome sequencing studies in autism and inflammatory bowel disease.

Daly’s group has developed numerous methods and widely used software tools, including GENEHUNTER and HAPLOVIEW, genetic analysis tools used in thousands of laboratories worldwide; GRAIL and DAPPLE, web-based utilities for the interpretation of genome-wide association results; and have contributed to additional widely distributed tools developed in the Broad community such as PLINK and GATK. His earlier work at the Whitehead Institute and Whitehead/MIT Center for Genome Research (precursor to the Broad Institute) was instrumental in developing an understanding of patterns of variation in the human and mouse genomes, and in the use of these patterns in disease gene mapping.

While developing computational and statistical methods that can be broadly applied, his group has several primary medical genetics research foci. He has extensive research program in neuropsychiatric genetics – particularly in autism, schizophrenia and ADHD – and has led large-scale GWAS and exome sequencing efforts in this area. His lab serves as the analytic hub for the Psychiatric GWAS Consortium, and international consortium leading the largest collaborative GWAS studies in 5 major psychiatric disorders. He also has a longstanding effort in the mapping of genes for Crohn’s disease and ulcerative colitis where he helped found and lead an international effort that has identified more than 150 genetic risk factors and, in collaboration with Dr. Ramnik Xavier’s group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts.

More recently, the group also participates in numerous studies using exome sequencing to articulate the genetic origins of rare inherited diseases, early-onset and pediatric cancers, and severe adverse drug responses. He is also a visiting professor at the Finnish Institute of Molecular Medicine (FIMM) in Helsinki and has co-authored more than 50 manuscripts with Finnish scientists studying the genetic origins of human disease.

Mark received his B.S. in physics from MIT and his Ph.D. in human genetics from Leiden University, Netherlands. Mark is a recipient of the 2014 Curt Stern Award, presented by the American Society of Human Genetics for outstanding scientific achievements in human genetics. He has an extensive publication record with an h-index of 150 and has been listed multiple times by publisher Thomson-Reuters as one of the top 10 most cited scientific authors.