105 articles
Haig H. Kazazian
Haig H. Kazazian (1937–2022) was an American human geneticist at Johns Hopkins and Penn who pioneered DNA-based prenatal diagnosis of hemoglobin disorders and showed that transposable elements cause human disease.
Harry Harris (biochemical geneticist)
Harry Harris (1919–1994) was a British-born human biochemical geneticist who used enzyme electrophoresis to show that genetic variation among ordinary healthy people is common and usually harmless.
Harry Heller
Harry Heller (1899–1967) was an Israeli physician born in Berlin who defined familial Mediterranean fever, classified the inherited amyloidoses, and was medical director of Tel-Hashomer Hospital.
Hartmut P.H. Neumann
Hartmut P.H. Neumann is a German internist and clinical geneticist who spent three decades at Freiburg studying von Hippel-Lindau disease, pheochromocytoma, and paraganglioma, and now runs a private preventive medicine practice.
Henry L. Nadler
Henry L. Nadler was an American pediatrician and medical geneticist who established prenatal diagnosis of hereditary disorders by amniocentesis at Northwestern, then served as dean of Wayne State University's medical school.
Hugo Zeberg
Hugo Zeberg is a Swedish physician and geneticist at Karolinska Institutet known for showing, with Svante Pääbo, that a Neanderthal-inherited gene segment raises the risk of severe COVID-19.
J. Brent Richards
J. Brent Richards is a Canadian endocrinologist and genetic epidemiologist at McGill University, known for large-scale studies of bone-density genetics, Mendelian randomization methods, and genetic susceptibility to severe COVID-19.
J.G. Seidman
J.G. Seidman, or Jonathan G. Seidman, is a human molecular geneticist and professor of genetics at Harvard Medical School known for identifying genes that cause hypertrophic cardiomyopathy and congenital heart defects.
Jacqueline A. Noonan
Jacqueline A. Noonan, also known as Jacqueline Noonan, was an American pediatric cardiologist at the University of Kentucky who described Noonan syndrome, named for her.
Jane Gitschier
Jane Gitschier is an American human geneticist who spent her career at UCSF, was an HHMI investigator from 1985 to 2006, and studied hemophilia and Menkes disease.
Janice Y. Chou
Janice Y. Chou, also known as Janice Yang Chou, is an American biochemist at NIH who established the genetic basis of glycogen storage disease type I.
Jeffery M. Vance
Jeffery M. Vance is an American neurogeneticist at the University of Miami known for showing that the APOE-ε4 allele is a major Alzheimer's risk factor.
Jennie Kline
Jennie Kline is an American epidemiologist and adjunct professor at Columbia University's Mailman School of Public Health known for research on trisomy, ovarian aging, and spontaneous abortion.
Jerry A. Schneider
Jerry A. Schneider (1937–2021) was an American pediatrician and researcher at UC San Diego who turned the fatal childhood disease cystinosis into a treatable condition through cysteamine therapy.
Jill Ann Fahrner
Jill Ann Fahrner is an American physician-scientist and medical geneticist at Johns Hopkins University who delineated Beck–Fahrner syndrome, a rare neurodevelopmental disorder caused by TET3 deficiency.
John Burn (clinical geneticist)
Sir John Burn, born 1952, is a British clinical geneticist at Newcastle University who led trials showing daily aspirin reduces cancer risk in Lynch syndrome.
John H. Edwards
John H. Edwards, or John Hilton Edwards, was a British physician and geneticist who identified trisomy 18, now called Edwards syndrome, in 1960 and built clinical genetics at Birmingham.
John L. Hopper
John L. Hopper (1950–2024) was an Australian genetic epidemiologist and statistician at the University of Melbourne who led the Australian Twin Registry from 1990 to 2024.
John Littlefield
John Walley Littlefield (1925–2017) was an American human geneticist and physician-scientist who developed amniocentesis for prenatal diagnosis, pioneered human gene mapping methods, and led pediatrics at Johns Hopkins.
John R. Riordan
John R. Riordan is a Canadian biochemist known for his central role in the 1989 discovery of the cystic fibrosis gene and its most common mutation, ΔF508.
John S. O’Brien
John S. O'Brien (John Smith O'Brien) was an American physician and biochemist who discovered the enzyme deficiency causing Tay-Sachs disease and identified the saposin proteins, lysosomal activator proteins.
Joseph D. Schulman
Joseph D. Schulman is an American physician and medical geneticist known for research on sulfur metabolism disorders and for founding the Genetics & IVF Institute in 1984.
Juha Kere
Juha Kere, born 1958, is a Finnish physician-scientist in medical molecular genetics, professor at Karolinska Institutet since 2001, known for positional cloning of Finnish disease genes including SLC26A3.
Julian C. Knight
Julian C. Knight is a physician-scientist and Professor of Genomic Medicine at the University of Oxford, known for mapping genetic variants that shape immune responses.
Klaus H. Kaestner
Klaus H. Kaestner, born 1961 in Münster, is a German-born American geneticist and genetics professor at the University of Pennsylvania known for FoxA and intestinal stem cell research.
Kurt Hirschhorn
Kurt Hirschhorn (1926–2022) was an Austrian-born American pediatrician and medical geneticist who identified the chromosome deletion defining Wolf-Hirschhorn syndrome and helped found clinical cytogenetics in the United States.
Leena Peltonen-Palotie
Leena Peltonen-Palotie, known as Leena Peltonen, was a Finnish geneticist who identified genes behind the Finnish disease heritage and led human genetics at the Sanger Institute.
Lindsay A. Farrer
Lindsay A. Farrer, also known as Lindsay Farrer, is an American genetic epidemiologist at Boston University known for research on the genetics of Alzheimer's disease, especially the APOE gene.
Louis J. Muglia
Louis J. Muglia is an American physician-scientist in medical genetics and pediatrics, known for research on the genetics of preterm birth and a 2017 New England Journal of Medicine study.
Luca A. Lotta
Luca A. Lotta, also published as Luca Lotta, is an Italian-trained physician and genetic epidemiologist who studies obesity genetics and leads cardiometabolic disease genetics at Regeneron.