Harry Ostrer

Harry Ostrer is a 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 having a disease prior to its occurrence or for predicting its outcome once it has occurred.

He is also known for his study, writings, and lectures about 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.

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.

Ostrer graduated in 1972 from the Massachusetts Institute of Technology (Physics, Course 8). While an undergraduate student, he worked in the laboratory of 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 for 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 member of the faculty of the University of Florida College of Medicine in Gainesville, Florida.

Ostrer has been a long-time investigator of the genetic basis of rare disorders - thalassemias, color vision deficiencies, hereditary sensory neuropathies, disorders of sex development and newly identified genetic syndromes.

While working at the Khao I Dang Holding Center in Thailand in 1981, he recruited Thai and Khmer subjects into a study of the shared origin of the Hemoglobin E mutation. Subsequently, he and his collaborators showed that this mutation alters 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.

Members of his group identified molecular actions of normal and mutant genes in normal and abnormal gonadal development, including, most recently, members of the MAP kinase signal transduction pathway. This has led to the creation of a national consortium based at Einstein to study the genetics of individuals with disorders of sex development.

Ostrer and his collaborators have studied the roles of common and rare genetic variants in the risk of developing cancer and adverse effects of cancer therapy.This has led to the development of ‘molecular signatures’ for prediction of cancer risk and adverse effects. They have also studied the role of copy number alterations in cancer progression to metastasis.This has led to the formulation of a ‘metastasis potential score’ for assessment of tumors at the time of diagnosis.

From his medical student days onward, Ostrer has studied the disease and population genetics of Jewish Diaspora groups. 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, suggesting a possible commonality for selection of heterozygotes for each of these classes of disorders.

He also observed that founder mutations for many of these disorders coalesced to the establishment of each of these Diaspora groups, whereas mutations for others arose at earlier points in Jewish history.

A series of studies from the Jewish HapMap Project that he co-founded with Gil Atzmon demonstrated that many features of Jewish history could be observed in the genomes of contemporary Jewish Diaspora groups – a higher degree of DNA segmental sharing within and between Jewish groups and admixture with local historical non-Jewish groups.

In a group of papers about Abraham's Children in the Genome Era, the members of the Jewish HapMap team explained that these observations are compatible with large-scale proselytism around the Mediterranean Basin during Classical Antiquity followed by relative genetic isolation and endogamy during the subsequent 2000 years. In a forthcoming book, Legacy: A Genetic History of the Jewish People, Ostrer has explored how these genetic observations might influence collective Jewish identity as well as be used to create a personalized genomics for Jewish people. He is also an investigator of the genetics of Hispanic and Latino people, including Puerto Ricans, Dominicans, Ecuadorians and Mexicans who currently reside in New York City.

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).

Ostrer has received awards from Rensselaer Polytechnic Institute, March of Dimes Birth Defects Foundation, Skin Cancer Foundation and Weizmann Institute of Science.In October, 2010, he was named to the Forward 50 list of “people who have made an imprint in the past year on the ways in which American Jews view the world and relate to each other.”

Ostrer received criticism from Johns Hopkins University post-doc Eran Elhaik, who challenged the validity of Ostrer's past work on the topic of the origin of European Jews. Elhaik has criticized Ostrer's explanations for Jewish demographic history and Ostrer being unwilling to share his data with other researchers, "unless research includes novelty and strength of the proposal, non-overlap with current or planned activities, and non-defamatory nature toward the Jewish people."

Pediatrician Catherine DeAngelis said that 'allowing scientists access to data only if their research will not defame Jews is "peculiar"', and added "what he does is set himself up for criticism: Wait a minute. What’s this guy trying to hide?"

Thirty researchers from nine countries—including the researchers who provided the data Elhaik analyzed—pooled their data to create "the largest data set available to date for assessment of Ashkenazi Jewish genetic origins" to formulate a response to Elhaik's hypothesis. They contradicted Elhaik's hypothesis and called Elhaik's procedural assumption that the Armenians and Georgians of the South Caucasus region could serve as appropriate proxies for Khazar descendants "problematic" and "particularly poor," concluding their analysis as follows:

We confirm the notion that the Ashkenazi, North African, and Sephardi Jews share substantial genetic ancestry and that they derive it from Middle Eastern and European populations, with no indication of a detectable Khazar contribution to their genetic origins.

2. Mendelian Diseases Among Roman Jews: Implications for the Origins of Disease Alleles.‘’Journal of Clinical Endocrinology & Metabolism.’’ Vol. 84, No. 12 4405-4409 (1999).

3. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%.‘’Nature Genetics.’’14, 188 - 190 (1996).

4. In DNA, New Clues to Jewish Roots.Wade, Nicholas.New York Times.May 14, 2002.

5. Gene Mutation Tied To Colon Cancers In Ashkenazi Jews.Wade, Nicholas.New York Times.August 26, 1997.

6. As Gene Test Menu Grows, Who Gets to Choose?.Harmon, Amy.New York Times.July 21, 2004.

8. Staying Alive, Staying Human. Kristof, Nicholas D.New York Times.February 11, 2003.

• Jewish Hapmap Project
• Genetics of Sex Determination