Mark Daly

Mark Daly

Mark Daly is a senior associate member of the Broad Institute and co-director of the Program in Medical and Population Genetics. His research primarily focuses on the development and application of statistical methods for the discovery and interpretation of genetic variation responsible for complex human disease. As founding chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital, he also has an expanded focus on the interpretation of genome sequence and the use of genome information in clinical settings.

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, and GRAIL and DAPPLE, web-based utilities for the interpretation of genome-wide association results. The team has also contributed to additional widely distributed tools developed in the Broad community such as PLINK and GATK. Daly’s earlier work at the Whitehead Institute and Whitehead/MIT Center for Genome Research 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 an extensive research program in neuropsychiatric genetics – particularly in autism, schizophrenia, and ADHD – and has led large-scale genome-wide association study (GWAS) and exome sequencing efforts in this area. His lab serves as the analytic hub for the Psychiatric GWAS Consortium, an international consortium leading the largest collaborative GWAS studies in five 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 Ramnik Xavier’s group, pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts.

More recently, Daly’s 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.

Daly received his B.S. in physics from MIT and his Ph.D. in human genetics from Leiden University, Netherlands.