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 The University of Helsinki ( fi, Helsingin yliopisto, sv, Helsingfors universitet, abbreviated UH) is a public research university located in Helsinki, Finland since 1829, but founded in the city of Turku (in Swedish ''Åbo'') in 1640 as the ...

, a Professor of Genetics at

Harvard Medical School Harvard Medical School (HMS) is the graduate medical school of Harvard University and is located in the Longwood Medical Area of Boston, Massachusetts. Founded in 1782, HMS is one of the oldest medical schools in the United States and is consi ...

, 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 The Eli and Edythe L. Broad Institute of MIT and Harvard (IPA: , pronunciation respelling: ), often referred to as the Broad Institute, is a biomedical and genomic research center located in Cambridge, Massachusetts, Cambridge, Massachusetts, U ...

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 In population genetics, linkage disequilibrium (LD) is the non-random association of alleles at different loci in a given population. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is h ...

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 Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...

. 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 The National Academy of Medicine (NAM), formerly called the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, En ...

in 2017.

Education

Daly studied physics at

MIT The Massachusetts Institute of Technology (MIT) is a private land-grant research university in Cambridge, Massachusetts. Established in 1861, MIT has played a key role in the development of modern technology and science, and is one of the mo ...

, although he initially wanted to become a lawyer or poker player, he joined

Eric Lander Eric Steven Lander (born February 3, 1957) is an American mathematician and geneticist who served as the 11th director of the Office of Science and Technology Policy and Science Advisor to the President, serving on the presidential Cabinet. Lan ...

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

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