Harry Ostrer | |
---|---|
Born | May 15, 1951 |
Education | Massachusetts Institute of Technology, Columbia University (M.D. 1976), Johns Hopkins University, National Institutes of Health |
Known for | Genetic basis of disorders |
Scientific career | |
Fields | Medical genetics, pediatrics |
Institutions | New York University School of Medicine; Albert Einstein College of Medicine at Yeshiva University; Howard Hughes Medical Institute; Khao-I-Dang Holding Center, Thailand; Johns Hopkins University; University of Florida College of Medicine |
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]
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of three to five. Less commonly, the disease may occur later in childhood, adolescence, or adulthood. These forms tend to be less severe, but the juvenile form typically results in death by age 15.
Ashkenazi Jews constitute a Jewish diaspora population that emerged in the Holy Roman Empire around the end of the first millennium CE. They traditionally speak Yiddish, a language that originated in the 9th century, and largely migrated towards northern and eastern Europe during the late Middle Ages due to persecution. Hebrew was primarily used as a literary and sacred language until its 20th-century revival as a common language in Israel.
Y-chromosomal Aaron is the name given to the hypothesized most recent common ancestor of the patrilineal Jewish priestly caste known as Kohanim. According to the traditional understanding of the Hebrew Bible, this ancestor was Aaron, the brother of Moses. A historical-critical reading of the biblical text suggests that the origin of the priesthood could have been much more complex, and that for much if not all of the First Temple period, kohen may have not (necessarily) synonymous with "Aaronide". Rather, this traditional identity seems to have been adopted sometime around the second temple period.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics 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 causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Myriad Genetics, Inc. is an American genetic testing and precision medicine company based in Salt Lake City, Utah, United States. Myriad employs a number of proprietary technologies that permit doctors and patients to understand the genetic basis of human disease and the role that genes play in the onset, progression and treatment of disease. This information is used to guide the development of new products that assess an individual's risk for developing disease later in life, identify a patient's likelihood of responding to a particular drug therapy, assess a patient's risk of disease progression and disease recurrence, and measure disease activity.
Jon Entine is an American science journalist. After working as a network news writer and producer for NBC News and ABC News, Entine moved into print journalism. Entine has written seven books and is a contributing columnist to newspapers and magazines. He is the founder and executive director of the science advocacy group the Genetic Literacy Project, and a former visiting scholar at the American Enterprise Institute. He is also the founder of the consulting company ESG Mediametrics.
In human mitochondrial genetics, Haplogroup K1a1b1a is a human mitochondrial DNA (mtDNA) haplogroup.
The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage. These two phenomena reduce genetic diversity and raise the chance that two parents will carry a mutation in the same gene and pass on both mutations to a child.
Genetic studies of Jews are part of the population genetics discipline and are used to analyze the ancestry of Jewish populations, complementing research in other fields such as history, linguistics, archaeology, and paleontology. These studies investigate the origins of various Jewish ethnic divisions. In particular, they examine whether there is a common genetic heritage among them. The medical genetics of Jews are studied for population-specific diseases.
The Program for Jewish Genetic Health is a centralized resource for the Jewish community, addressing all health concerns related to the medical genetics of the Jewish people. The Program's stated mission is to protect the health of the current Jewish community and its future generations. Launched in 2011, the Program for Jewish Genetic Health integrates the social mission they Montefiore Health System with the clinical services, genetic education, and biomedical advances of its medical school, the Albert Einstein College of Medicine.
For preventing Tay–Sachs disease, three main approaches have been used to prevent or reduce the incidence of Tay–Sachs disease in those who are at high risk:
Advances in knowledge about Tay–Sachs disease have stimulated debate about the proper scope of genetic testing, and the accuracy of characterizing diseases as specific to one ethnicity. Jewish communities have been in the forefront of genetic screening and counseling for this disease.
Genetic studies on Arabs refers to the analyses of the genetics of ethnic Arab people in the Middle East and North Africa. Arabs are genetically diverse as a result of their intermarriage and mixing with indigenous people of the pre-Islamic Middle East and North Africa following the Arab and Islamic expansion. Genetic ancestry components related to the Arabian Peninsula display an increasing frequency pattern from west to east over North Africa. A similar frequency pattern exist across northeastern Africa with decreasing genetic affinities to groups of the Arabian Peninsula along the Nile river valley across Sudan and the more they go south. This genetic cline of admixture is dated to the time of Arab migrations to the Maghreb and northeast Africa.
The Invention of the Jewish People is a study of Jewish historiography by Shlomo Sand, Professor of History at Tel Aviv University. It has generated a heated controversy. The book was on the best-seller list in Israel for nineteen weeks.
The Khazar hypothesis of Ashkenazi ancestry, often called the Khazar myth by its critics, is a largely abandoned historical hypothesis that postulated that Ashkenazi Jews were primarily, or to a large extent, descended from Khazars, a multi-ethnic conglomerate of mostly Turkic peoples who formed a semi-nomadic khanate in and around the northern and central Caucasus and the Pontic–Caspian steppe. The hypothesis also postulated that after collapse of the Khazar empire, the Khazars fled to Eastern Europe and made up a large part of the Jews there. The hypothesis draws on medieval sources such as the Khazar Correspondence, according to which at some point in the 8th–9th centuries, a small number of Khazars were said by Judah Halevi and Abraham ibn Daud to have converted to Rabbinic Judaism. The scope of the conversion within the Khazar Khanate remains uncertain, but the evidence used to tie the subsequent Ashkenazi communities to the Khazars is meager and subject to conflicting interpretations.
Paul Wexler is an American-born Israeli linguist, and Professor Emeritus of linguistics at Tel Aviv University. His research fields include historical linguistics, bilingualism, Slavic linguistics, creole linguistics, Romani and Jewish languages.
Eran Elhaik is an Israeli-American geneticist and bioinformatician, an associate professor of bioinformatics at Lund University in Sweden and Chief of Science Officer at an ancestry testing company called Ancient DNA Origins owned by Enkigen Genetics Limited, registered in Ireland. His research uses computational, statistical, epidemiological and mathematical approaches to fields such as complex disorders, population genetics, personalised medicine, molecular evolution, genomics, paleogenomics and epigenetics.
Itsik Pe'er is a computational biologist and a Full Professor in the Department of Computer Science at Columbia University.
Haig Hagop Kazazian Jr. was an American professor in the Department of Genetic Medicine at Johns Hopkins University School of Medicine in Baltimore, Maryland. Kazazian was an elected member of the National Academy of Sciences and the American Academy of Arts and Sciences.
In the late 19th century, amid attempts to apply science to notions of race, the founders of Zionism sought to reformulate conceptions of Jewishness in terms of racial identity and the "race science" of the time. They believed that this concept would allow them to build a new framework for collective Jewish identity, and thought that biology might provide "proof" for the "ethnonational myth of common descent" from the biblical land of Israel. Countering antisemitic claims that Jews were both aliens and a racially inferior people who needed to be segregated or expelled, these Zionists drew on and appropriated elements from various race theories, to argue that only a Jewish national home could enable the physical regeneration of the Jewish people and a renaissance of pride in their ancient cultural traditions.