Director of the Finnish Institute for Molecular Medicine (FIMM)
Founding Chief of the Analytic and Translational Genetic Unit (ATGU)
Massachusetts General Hospital
Associate Professor of Medicine at Harvard Medical School
Institute member, Broad Institute of MIT and Harvard
Dr. Mark Daly is Director of the Finnish Institute for Molecular Medicine (FIMM) at the University of Helsinki, Founding Chief of the Analytic and Translational Genetic Unit (ATGU) at Massachusetts General Hospital, Associate Professor of Medicine at Harvard Medical School, and Institute member of the Broad Institute of MIT and Harvard.
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. At the Broad, he is an Institute Member and Co-Director of the Program in Medical and Population Genetics, where he leads many large scale genome sequencing studies in autism and inflammatory bowel disease.
In February of 2018, he was appointed Director of the Institute of Molecular Medicine Finland (FIMM), and now divides his time between Helsinki and Boston, although he maintains his primary lab and affiliations in Boston. FIMM is a translational research institute with a focus on cancer, digital diagnostics, genetics and epidemiology and is the home of landmark efforts such as the FinnGen Project.
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 an analytic hub for the Psychiatric GWAS Consortium, an 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 pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. He is also co-PI of the gnomAD project and committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.
Dr. Daly has received many awards and was elected to the National Academy of Medicine in 2017.
He studied
physics at MIT, and although he initially wanted to become a lawyer or poker player,
he joined Eric Lander’s lab at the Whitehead Institute as a freshman to do
genetics research. He received his PhD in Human Genetics from Leiden University
in 2004.
Director of the Finnish Institute for Molecular Medicine (FIMM)
Founding Chief of the Analytic and Translational Genetic Unit (ATGU)
Massachusetts General Hospital
Associate Professor of Medicine at Harvard Medical School
Institute member, Broad Institute of MIT and Harvard
Dr. Mark Daly is Director of the Finnish Institute for Molecular Medicine (FIMM) at the University of Helsinki, Founding Chief of the Analytic and Translational Genetic Unit (ATGU) at Massachusetts General Hospital, Associate Professor of Medicine at Harvard Medical School, and Institute member of the Broad Institute of MIT and Harvard.
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. At the Broad, he is an Institute Member and Co-Director of the Program in Medical and Population Genetics, where he leads many large scale genome sequencing studies in autism and inflammatory bowel disease.
In February of 2018, he was appointed Director of the Institute of Molecular Medicine Finland (FIMM), and now divides his time between Helsinki and Boston, although he maintains his primary lab and affiliations in Boston. FIMM is a translational research institute with a focus on cancer, digital diagnostics, genetics and epidemiology and is the home of landmark efforts such as the FinnGen Project.
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 an analytic hub for the Psychiatric GWAS Consortium, an 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 pursues the functional interpretation and clinical ramifications of these continued gene discovery efforts. He is also co-PI of the gnomAD project and committed to ensuring the output of all ATGU genomic research is maximally accessible and useful to the clinical and research communities.
Dr. Daly has received many awards and was elected to the National Academy of Medicine in 2017.
He studied
physics at MIT, and although he initially wanted to become a lawyer or poker player,
he joined Eric Lander’s lab at the Whitehead Institute as a freshman to do
genetics research. He received his PhD in Human Genetics from Leiden University
in 2004.
Journal article
Genetic mutations that yield defective cystic fibrosis transmembrane regulator ( CFTR ) protein cause cystic fibrosis, a life-limiting autosomal recessive Mendelian disorder. A protective role of CFTR loss-of-function mutations in inflammatory bowel disease (IBD) has been suggested, but its evidence has been inconclusive and contradictory. Here, leveraging the largest IBD exome sequencing dataset to date, comprising 38,558 cases and 66,945 controls in the discovery stage, and 35,797 cases and...
Journal article
Ultraviolet (UV) radiation is known to be the most important environmental carcinogen for cutaneous melanoma. While genomic analyses of melanoma tumors implicate a high rate of UV damage, the experimental induction and recovery of bona fide UV-signature changes have not been directly observed. To replicate recurrent UV mutations from TCGA_SKCM specimens, we UV-irradiated cultured immortalized human melanocytes and subjected them to in vivo tumorigenesis assays. Exome sequencing of the...