Haig Kazazian

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Haig H. Kazazian
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Toledo, Ohio
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Scientific career
FieldsGenetics

Haig H. Kazazian ( -January 19, 2022) was a professor in the Department of Genetic Medicine at Johns Hopkins University School of Medicine, Baltimore, Maryland. [1] Kazazian determined the molecular basis of single-gene genetic disorders such as hemoglobinopathies and hemophilia. His group was the first to identify a disease-causing mutation resulting from jumping genes in humans.

Early life and education

Kazazian was born in Toledo, Ohio. His Armenian father left Kayseri, Turkey and escaped the 1915 Armenian genocide, arriving in the U.S. in 1923. His mother left Istanbul and arrived in the U.S. in 1920. Kazazian grew up speaking Armenian, Turkish and English.[2][3]

Kazazian attended Dartmouth College, receiving his A.B. degree from Dartmouth College in 1959, followed by a two-year program at Dartmouth Medical School. He completed his M.D. degree at Johns Hopkins University School of Medicine[4] in 1962[2] and interned in pediatrics at the University of Minnesota.[2]

Career

Kazazian returned to Baltimore, Maryland as a postdoctoral fellow, studying the genetics of fruit flies with Barton Childs at Johns Hopkins (1964–1966)[2][3] In 1966 he joined Harvey Itano at the National Institutes of Health.[4][5] In Itano's labotory, Kazazian worked on hemoglobin regulation.[3]

Kazazian joined the faculty at Johns Hopkins in 1969, became head of the Pediatric Genetics Unit and a full professor in 1977, and became Director of the Center for Medical Genetics at Johns Hopkins in 1988[4]. He established one of the first DNA diagnostic laboratories with molecular detection facilities for identifying monogenic disorders, and introduced prenatal diagnosis for hemoglobin disorders.[1]

In 1994 Kazazian became Chair of the Department of Genetics at the University of Pennsylvania School of Medicine, holding the position until 2006. He remained at the University of Pennsylvaniaf as the Seymour Gray Professor of Molecular Medicine in Genetics from 2006-2010[4].

In July 2010, Kazazian returned to Johns Hopkins, holding the position of a Professor in the Institute of Genetic Medicine[4].

Research

Kazazian has made important contributions to human genetics through his research into DNA haplotypes and the molecular basis of beta thalassemia and through his exploration of retrotransposons (jumping genes).[5]

Much of his early research focused on the regulation of hemoglobin synthesis and its implications for the human blood disorder β-thalassemia.[3] Using information on β-globin DNA polymorphisms from Stylianos Antonarakis and others, Kazazian helped develop methods for prenatal diagnosis. Coining the term haplotypes for certain types of polymorphisms, Kazazian collaborated with Stuart Orkin to characterize the mutations causing beta-thalassemia.[3][1]

In the 1980s, Kazazian began to study the factor 8 blood-clotting gene, which was known to be defective in hemophilia A. Lab member Hagop Youssoufian found a long interspersed nuclear element (LINE) insertion, colloquially as a “jumping gene”. Jumping genes were discovered in maize by Barbara McClintock.[3] The Kazazian lab was the first to discover a jumping gene in humans whose mutation caused a disease.[1]

Haig has focused much of his subsequent work on LINE retrotransposition in humans, and the role of mobile DNA elements (transposons or "jumping genes") in human disease. Retrotransposons copy and insert themselves into new locations in the genome. A small number of LINE-1 (L1) insertions are active in humans. In addition to understanding diseases, studying L1 insertions enables researchers to learn about human diversity.[6]

Kazazian and Richard Cotton were founding co-editors of Human Mutation, which appeared in 1992.[7]

In 1999, Kazazian and Arupa Ganguly were among the first plaintiffs in the 2013 Supreme Court ruling that companies cannot patent parts of naturally occurring human genes.[1][8] In a unanimous ruling, for Association for Molecular Pathology v. Myriad Genetics, Inc., the court stated that "a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but manmade cDNA is patent eligible because it is not naturally occurring."[9][10][11]

Kazazian's book Mobile DNA: Finding Treasure in Junk gives an overview of research on transposable elements. It does a "remarkable job" of discussing early contributors, the development of computational biology, and the field of mobile DNA and retrotransposable elements.[12]

Awards

References

  1. ^ a b c d e Wasta, Vanessa; Butch, Rachel (2 February 2022). "Haig Kazazian, pioneer in genetic medicine, dies at 84". The Hub. Retrieved 6 February 2022.
  2. ^ a b c d e Antonarakis, Stylianos E. (13 February 2009). "William Allan Award Introduction: Haig H. Kazazian, Jr". American Journal of Human Genetics. 84 (2): 103–104. doi:10.1016/j.ajhg.2009.01.002. ISSN 0002-9297. Retrieved 6 February 2022.
  3. ^ a b c d e f g Azar, Beth (22 December 2020). "Profile of Haig H. Kazazian Jr". Proceedings of the National Academy of Sciences. 117 (51): 32185–32188. doi:10.1073/pnas.2023398117. ISSN 0027-8424. Retrieved 6 February 2022.
  4. ^ a b c d e "Haig H. Kazazian". InformIT. Retrieved 5 February 2022.
  5. ^ a b Kazazian, Haig H. (31 August 2021). "A Long, Fulfilling Career in Human Genetics". Annual Review of Genomics and Human Genetics. 22 (1): 27–53. doi:10.1146/annurev-genom-111620-095614. ISSN 1527-8204. Retrieved 5 February 2022.
  6. ^ "Johns Hopkins Researchers Capture Jumping Genes". Johns Hopkins Medicine. February 4, 2011. Retrieved 6 February 2022.
  7. ^ "Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton". Human Mutation. 37 (6): 598–615. 2016. doi:10.1002/humu.22990. PMID 27030029. S2CID 205923182.
  8. ^ Butanis, Benjamin. "Supreme Court Rules on Gene Patent Case". Johns Hopkins Medicine. Retrieved 6 February 2022.
  9. ^ Goldstein, Tom (13 June 2013). "Details on Association for Molecular Pathology v. Myriad Genetics, Inc". SCOTUSblog. Retrieved 6 February 2022.
  10. ^ Brandom, Russell (14 June 2013). "After Supreme Court ruling, don't count out gene patenting quite yet". The Verge. Retrieved 6 February 2022.
  11. ^ Marbella, Jean (June 13, 2013). "Ban on patenting DNA cheers researchers". The Baltimore Sun. Retrieved 6 February 2022.
  12. ^ Batzer, Mark A. (11 July 2013). "Mobile DNA: Finding Treasure in Junk". American Journal of Human Genetics. 93 (1): 5. doi:10.1016/j.ajhg.2013.06.001. ISSN 0002-9297. Retrieved 6 February 2022. {{cite journal}}: no-break space character in |first1= at position 5 (help)

Category:xxxx births

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