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Mark Daly

Ph.D.

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.

Mark Daly

Ph.D.

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.

Recent Publications

GWAS Meta-analysis Identifies Novel Associated Loci and Points to Causal Tissues in Central Serous Chorioretinopathy

Published On 2026 Jun 04

Journal article

CONCLUSIONS AND RELEVANCE: In this GWAS meta-analysis, CSC susceptibility localized predominantly to scleral and vascular biology rather than primary retinal pigment epithelial dysfunction. These findings support CSC as a sclerovascular disorder and nominate complement regulation, endothelial signaling, and extracellular matrix pathways for future study.


Exome sequencing directly implicates 68 genes in inflammatory bowel disease

Published On 2026 May 25

Journal article

Inflammatory bowel disease (IBD) is a chronic immune-mediated disorder of the gastrointestinal tract whose genetic basis is only partly resolved because most risk variants identified by genome-wide association studies (GWAS) lie in non-coding regions, limiting direct gene assignment and biological interpretation1,2. Here we analysed whole-exome and whole-genome sequencing data from 86,213 IBD cases and 478,363 controls of European ancestry. We identified 68 IBD genes directly implicated by...