Harry Ostrer
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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 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 Pathology is the study of the causes and effects of disease or injury. The word ''pathology'' also refers to the study of disease in general, incorporating a wide range of biology research fields and medical practices. However, when used in ...
and
Genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
at
Albert Einstein College of Medicine Albert Einstein College of Medicine is a research-intensive medical school located in the Morris Park neighborhood of the Bronx in New York City. Founded in 1953, Einstein operates as an independent degree-granting institution as part of t ...
of
Yeshiva University Yeshiva University is a private Orthodox Jewish university with four campuses in New York City."About YU
on the Yeshiva Universit ...
and Director of Genetic and Genomic Testing at
Montefiore Medical Center Montefiore Medical Center is a premier academic medical center and the primary teaching hospital of the Albert Einstein College of Medicine in the Bronx, New York City. Its main campus, the Henry and Lucy Moses Division, is located in the Norwoo ...
. 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 NYU Grossman School of Medicine is a medical school of New York University, a private research university in New York City. It was founded in 1841 and is one of two medical schools of the university, with the other being the Long Island School of ...
.


Education

Ostrer graduated in 1972 from the
Massachusetts Institute of Technology 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 ...
(Physics, Course 8). As an undergraduate student, he worked in the laboratory of
Salvador Luria Salvador Edward Luria (August 13, 1912 – February 6, 1991) was an Italian microbiologist, later a naturalized U.S. citizen. He won the Nobel Prize in Physiology or Medicine in 1969, with Max Delbrück and Alfred Hershey, for their discoveries ...
, studying the effects of the bactericidal agent Colicin K. He received his M.D. degree from the
Columbia University Columbia University (also known as Columbia, and officially as Columbia University in the City of New York) is a private research university in New York City. Established in 1754 as King's College on the grounds of Trinity Church in Manhatt ...
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 Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the caus ...
at
Johns Hopkins University Johns Hopkins University (Johns Hopkins, Hopkins, or JHU) is a private university, private research university in Baltimore, Maryland. Founded in 1876, Johns Hopkins is the oldest research university in the United States and in the western hem ...
and in
molecular genetics Molecular genetics is a sub-field of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among organisms. Molecular genetics often applies an "investigative approach" to determine the ...
at the
National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...
(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 The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization based in Chevy Chase, Maryland. It was founded in 1953 by Howard Hughes, an American business magnate, investor, record-setting pilot, engineer, fil ...
at Johns Hopkins University and a faculty member at the
University of Florida College of Medicine The University of Florida College of Medicine is the medical school of the University of Florida. It is part of the J. Hillis Miller Health Science Center, with facilities in Gainesville and Jacksonville, Florida. The school grants Doctor o ...
in Gainesville, Florida.


Research

Ostrer has investigated the genetic basis of rare disorders, including
thalassemia Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin). Anemia can result ...
s,
color vision Color vision, a feature of visual perception, is an ability to perceive differences between light composed of different wavelengths (i.e., different spectral power distributions) independently of light intensity. Color perception is a part of ...
deficiencies, hereditary sensory neuropathies,
disorders of sex development Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromoso ...
and newly identified genetic syndromes. While working at the Khao I Dang Holding Center in
Thailand Thailand ( ), historically known as Siam () and officially the Kingdom of Thailand, is a country in Southeast Asia, located at the centre of the Indochinese Peninsula, spanning , with a population of almost 70 million. The country is bo ...
in 1981, he recruited Thai and Khmer subjects for a study of the shared origin of the
Hemoglobin E Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northea ...
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 Animal opsins are G-protein-coupled receptors and a group of proteins made light-sensitive via a chromophore, typically retinal. When bound to retinal, opsins become Retinylidene proteins, but are usually still called opsins regardless. Most pro ...
caused color vision deficiencies by altering spectral tuning, transport, and stability of the encoded visual pigment proteins. 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. In the 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. He co-founded The Jewish HapMap Project with Gil Atzmon, which has sought to demonstrate that features of Jewish history could be observed in the genomes of contemporary Jewish diaspora groups, such as proselytism in the Mediterranean Basin in the Classical Era followed by relative genetic isolation and endogamy during the subsequent 2,000 years. He has also investigated 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).


Criticisms

Ostrer received criticism from Johns Hopkins University post-doc
Eran Elhaik Eran Elhaik (born 1980) is an Israeli-American geneticist and bioinformatician, and an associate professor of bioinformatics at Lund University in Sweden. His research uses computational, statistical, epidemiological and mathematical approaches t ...
, 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 Catherine D. DeAngelis is the first woman and the first pediatrician to become editor of the ''Journal of the American Medical Association'' (JAMA).
said that the requirement that the research not defame Jews was "peculiar", and that "what he does is set himself up for criticism: Wait a minute. What’s this guy trying to hide?" Behar et al. formulated 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.
In a 2015 overview of the issue of attempts to derive an inclusive genetic profile of all Jews,
Raphael Falk Raphael Alexandrovich Falk (1856 – 1913) was a Russian chess master. He took 12th at Moscow 1899 (the 1st Russian Chess Championship, Mikhail Chigorin won), shared 1st with Goncharov in Moscow City Chess Championship in 1901, and tied for 5-7 ...
, touching on Elhaik's contribution to the argument in 2013, wrote:
The findings support the hypothesis that posits that European Jews are Caucasus, European, and Middle Eastern ancestries, and portray the European Jewish genome as a mosaic of Caucasus, European, and Semitic ancestries, thereby consolidating previous contradictory reports of Jewish ancestry.
Falk then noted the follow-up paper by Behar challenging Elhaik's results argued that the southern Caucasus populations, sampled by Elhaik were related to countries further south. The problem, he concluded, was that 'the risk of circularity of the argument is exposed: Geneticist determine the genotypic details of socio-ethnologists' classifications, whereas socio-demographers rely on geneticists findings to bolster their classifications.'
Raphael Falk Raphael Alexandrovich Falk (1856 – 1913) was a Russian chess master. He took 12th at Moscow 1899 (the 1st Russian Chess Championship, Mikhail Chigorin won), shared 1st with Goncharov in Moscow City Chess Championship in 1901, and tied for 5-7 ...
'
'Genetic markers cannot determine Jewish descent,'
Frontiers in Genetics Frontiers Media SA is a publisher of peer-reviewed, open access, scientific journals currently active in science, technology, and medicine. It was founded in 2007 by Kamila and Henry Markram, and has since expanded to other academic fields. Fron ...
, 2014; 5: 462, online 21 January 2015


See also

*
Race and genetics Researchers have investigated the relationship between race and genetics as part of efforts to understand how biology may or may not contribute to human racial categorization. Many constructions of race are associated with phenotypical traits an ...


References


Journal citations

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.


External links to Ostrer projects


Jewish Hapmap Project

Genetics of Sex Determination
{{DEFAULTSORT:Ostrer, Harry Living people Year of birth missing (living people) American geneticists Jewish American scientists Medical geneticists Judaic scholars University of Florida faculty Massachusetts Institute of Technology School of Science alumni Columbia University Vagelos College of Physicians and Surgeons alumni Johns Hopkins University alumni 21st-century American Jews