Mark Joseph Daly is Director of the

Finnish Institute for Molecular Medicine The Institute for Molecular Medicine Finland (FIMM) is an international research institute which investigates the molecular mechanism of diseases by methods involving genetics and medical systems biology. The research combines technology and high-l ...

(FIMM) at the University of Helsinki, a Professor of Genetics at Harvard Medical School, Chief of the Analytic and Translational Genetic Unit at

Massachusetts General Hospital Massachusetts General Hospital (Mass General or MGH) is the original and largest teaching hospital of Harvard Medical School located in the West End neighborhood of Boston, Massachusetts. It is the third oldest general hospital in the United Stat ...

, and a member of the Broad Institute of MIT and Harvard. In the early days of the

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

, Daly helped develop the genetic model by which linkage disequilibrium could be used to map the

haplotype A haplotype ( haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material ( DNA) which is inherited from two parents. Normally these organisms have their DNA or ...

structure of the human genome. In addition, he developed statistical methods to find associations between genes and disorders such as

Crohn's disease Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea (which may be bloody if inflammation is severe), fever, abdominal distension ...

inflammatory bowel disease Inflammatory bowel disease (IBD) is a group of inflammation, inflammatory conditions of the colon (anatomy), colon and small intestine, Crohn's disease and ulcerative colitis being the principal types. Crohn's disease affects the small intestine a ...

autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...

and schizophrenia. Daly is considered a pioneer in the field of human genetics, and is amongst the most cited scientists in the field, and one of the top 100 most cited scientists of all time. He was elected to the National Academy of Medicine in 2017.

Education

Daly studied physics at MIT, although he initially wanted to become a lawyer or poker player, he joined Eric Lander as a freshman. Mark continued to work with Lander, before eventually receiving his PhD from

Leiden University Leiden University (abbreviated as ''LEI''; nl, Universiteit Leiden) is a Public university, public research university in Leiden, Netherlands. The university was founded as a Protestant university in 1575 by William the Silent, William, Prince o ...

in 2004.

Research

Daly trained with Eric Lander at the

Whitehead Institute Whitehead Institute for Biomedical Research is a non-profit research institute located in Cambridge, Massachusetts, United States that is dedicated to improving human health through basic biomedical research. It was founded as a fiscally indepen ...

, and most of his initial efforts were to map haplotypes across the human genome. During his time there, his team developed MapMaker, GeneHunter,

Haploview Haploview is a commonly used bioinformatics software which is designed to analyze and visualize patterns of linkage disequilibrium (LD) in genetic data. Haploview can also perform association studies, choosing tagSNPs{{cite journal, author1=de Bakk ...

PLINK Putty is a material with high plasticity, similar in texture to clay or dough, typically used in domestic construction and repair as a sealant or filler. Although some types of putty (typically those using linseed oil) slowly polymerise and beco ...

, and GATK. Collectively these tools have received over 30,000 citations. As genome sequencing has become cheaper, his group works on developing statistical methods to implicate genetic mutations in neuropsychiatric diseases.

References

{{DEFAULTSORT:Daly, Mark Living people 1967 births American geneticists Genetic epidemiologists Harvard Medical School faculty Massachusetts Institute of Technology School of Science alumni Leiden University alumni American expatriates in Finland Members of the National Academy of Medicine