Harry Ostrer (born May 15, 1951) is an American medical geneticist who investigates the genetic basis of common and rare disorders. In the diagnostic laboratory, he translates the findings of genetic discoveries into tests that can be used to identify people's risks for disease prior to occurrence, or for predicting its outcome once it has occurred. He is also known for his study, writing and lectures on the origins of the Jewish people.

He is a professor of Pathology and Genetics at Albert Einstein College of Medicine of Yeshiva University and Director of Genetic and Genomic Testing at Montefiore Medical Center.^[1]

For the prior 21 years he was Professor of Pediatrics, Pathology and Medicine and Director of the Human Genetics Program at New York University School of Medicine.^[2]

Ostrer graduated in 1972 from the Massachusetts Institute of Technology, where he worked as an undergraduate student under Salvador Luria, studying the effects of the bactericidal agent Colicin K. He received his M.D. degree from the Columbia University College of Physicians and Surgeons in 1976.

While at Columbia, he established a community-based genetic screening program that was a pivotal influence on his subsequent career choice of medical genetics. He trained in pediatrics and medical genetics at Johns Hopkins University and in molecular genetics at the National Institutes of Health (NIH).

While at NIH, he worked in the laboratory of Joram Piatigorsky to understand the molecular biology of crystallins in the developing lens. Prior to his position at NYU, Ostrer was a research associate of the Howard Hughes Medical Institute at Johns Hopkins University and a faculty member at the University of Florida College of Medicine in Gainesville, Florida.

Ostrer's research is focused on genetic testing, particularly the genetic origins of Jews.^[3] His research on Jewish genetics was praised by other geneticists as innovative.^[4] Oster has stressed that his work is not intended to create a hierarchy in human society or support eugenic aims, and he seeks to understand genetic differences without promoting discrimination. His work is intended to connect with heritage through genetic research and foster group identity and pride among Jewish people for their long history.^[5] Although his research reveals distinctive markers in Jewish populations, he points out that DNA does not replace traditional religious definitions of Jewishness.^[6] Ostrer's work was released around the same time as Behar's and had similar results.^[7]

Ostrer has investigated the genetic basis of rare disorders, including thalassemias, color vision deficiencies, hereditary sensory neuropathies, disorders of sex development and newly identified genetic syndromes.^{[citation needed]}

While working at the Khao-I-Dang Holding Center in Thailand in 1981, he recruited Thai and Khmer subjects for a study of the shared origin of the Hemoglobin E mutation. He and his collaborators subsequently showed that this mutation altered the splicing of the encoded globin transcript, resulting in a mild thalassemia phenotype. At NYU, members of his laboratory showed that genetic variants in the X-cone opsin caused color vision deficiencies by altering spectral tuning, transport, and stability of the encoded visual pigment proteins.^{[citation needed]}

In a 2001 article in Nature Reviews Genetics, he noted the curious over-representation of lysosomal storage diseases, disorders of DNA repair, clotting disorders, and metabolic disorders in Jewish diaspora groups, suggesting a possible commonality for selection of heterozygotes for each of these classes of disorders.^{[citation needed]} In the 2012 book Legacy: A Genetic History of the Jewish People, Ostrer explored how these genetic observations might influence collective Jewish identity as well as be used to create a personalized genomics for Jewish people.^[8][9][10]

Ostrer has written two other books on genetics, Essentials of Medical Genomics (2002 with Stuart Brown and John Hay) and Non-Mendelian Genetics in Humans (1998).^{[citation needed]} Ostrer also coauthored the 2022 study on Erfurt Jews showing that the Ashkenazi founder event pre-dated the 14th century, which cites his 2012 book.^[11]

In Association for Molecular Pathology v. Myriad Genetics, Inc., Ostrer was part of a group of scientists that sued Myriad Genetics after it told him to stop testing for the BRCA mutation because it violated their BRCA1/BRCA2 patent, becoming the sole remaining plaintiff and winning a summary judgment for "products of nature," that was reversed on appeal, but the Supreme Court invalidated Myriad's patents.^[12][13]

Ostrer's work was criticized by Eran Elhaik, who challenged its conclusions and instead promoted the Khazar hypothesis of Ashkenazi ancestry.^[14][15][16] In a 2020 article in Avotaynu, Ostrer responded by saying that Elhaik:^[17]

"was criticized for sampling only a small number of Ashkenazi Jews, for assuming that Armenians and Georgians would be proxies for Khazars, and for accepting the Khazarian hypothesis as fact... Subsequently, Elhaik published a follow-up study in which he applied his technique of geographic population structure (GPS) (Das, et al., 2016). This method assumes that genetic coordinates can be overlaid with geographic coordinates. In fact, this method has worked quite well when applied to the populations of Europe. By Elhaik’s reckoning, the ancestral Ashkenazi Jewish population mapped to the southern coast of the Black Sea in northeastern Turkey. He even identified four villages in the regions with names similar to Ashkenaz. ... A team of investigators led by Pavel Flegontov and Alexei Kassian pointed out that Elhaik misapplied the GPS technique because it is intended for inferring a geographic region where a modern, unadmixed population is likely to have arisen. It is not suitable for admixed populations nor for tracing ancestry that occurred 1,000 years ago (Flegontov, et al., 2016). Simplistically stated, if the Ashkenazi Jews are presumed to have dual Middle Eastern and Southern European origins, then the GPS method would infer their origins to be at some midpoint, such as the Black Sea coast of Turkey."

Geneticist Sarah Tishkoff said that Ostrer's work along with Doron Behar's study "clearly show a genetic common ancestry" to the majority of Jewish populations. ^[18]

Pediatrician Catherine DeAngelis was critical of Ostrer's requirement that research using his data not defame Jews, calling it "peculiar", and opining "what he does is set himself up for criticism: Wait a minute. What’s this guy trying to hide?"^[19]

Science journalist and director of the Genetic Literacy Project Jon Entine said Ostrer "gets it just right" with his work, which he reviews as nuanced and controversial.^[8]

• Genetic studies of Jews
• Race and genetics

• Jewish Hapmap Project
• Genetics of Sex Determination