Stuart_Orkin

Stuart Orkin
Stuart Holland Orkin is an American physician, stem

cell biologist and researcher in pediatric hematology- Stuart H. Orkin
oncology. He is the David G. Nathan Distinguished Born April 23, 1946
Professor of Pediatrics at Harvard Medical School. Nationality American
Orkin's research has focused on the genetic basis of Education Massachusetts Institute of
blood disorders. He is a member of the National Technology, Harvard Medical
Academy of Sciences and the Institute of Medicine, School
and an Investigator of the Howard Hughes Medical
Scientific career
Institute.
Fields Pediatric oncology
Institutions Dana–Farber/Harvard Cancer
Early life Center
Orkin grew up in Manhattan, where his father was a urologist.[1] He studied biology as an undergraduate
(B.S., 1967) at the Massachusetts Institute of Technology and earned a medical degree from Harvard
Medical School in 1972. He did postdoctoral research in molecular biology at the National Institutes of
Health under geneticist Philip Leder. While Orkin was completing his training in hematology-oncology,
his department chair, David G. Nathan, allowed him to establish his own research laboratory.[2]
Career
Orkin is the David G. Nathan Distinguished Professor of Pediatrics at Harvard Medical School. He
served as Chair of the Department of Pediatric Oncology at the Dana–Farber/Harvard Cancer Center from
2000–2016.[3] He has been on the Harvard Medical School faculty since the late 1970s and has been a
Howard Hughes Medical Institute investigator since 1986.[4][5]
In the 1970s and 1980s, Orkin conducted research that identified genetic mutations associated with a
group of blood disorders known as the thalassemias.[6] This work led to the first comprehensive
description of molecular defects in an inherited disorder. Later (1986), he and his team cloned a gene
causing chronic granulomatous disease, marking the first time that a disease-causing gene was cloned
without the researchers already knowing the protein coded by the gene.[6] Today, his research lab
examines transcriptional regulators of cell specification and differentiation.[7] His laboratory cloned the
first hematopoietic transcription factor GATA1 (1989). Starting in 2008, Orkin and his colleagues
published a series of papers identifying the critical role for BCL11A in the developmental switch from
fetal type (HbF) to adult type (HbA) hemoglobin. His group demonstrated that loss of BCL11A alone is
sufficient to rescue the phenotype of sickle cell disease (SCD). In September 2015, Orkin published a
study in the journal Nature showing a small section of DNA which could be responsive to gene therapy
for sickle-cell disease.[8] Translation of the basic findings on the role of BCL11A in HbF silencing to the
clinic is ongoing both with gene therapy and therapeutic gene editing.
Honors and awards

In 1987, Orkin received the E. Mead Johnson Award.[9] Elected to the National Academy of Sciences in
1991, Orkin won the Jessie Stevenson Kovalenko Medal from that organization in 2013.[10] He was
elected to the Institute of Medicine in 1992.[11] In 1993, he received the Warren Alpert Foundation
Prize.[12] The American Society of Hematology named Orkin one of its Legends in Hematology in
2008.[13] The American Society of Human Genetics honored Orkin with the 2014 William Allan Award,
which recognizes sustained and significant contributions to human genetics.[6] In 2017, he was elected to
membership in the American Philosophical Society,[14] and in 2018 he received the George M. Kober
Medal of the Association of American Physicians and the Mechthild Esser Nemmers Prize in Medical
Science from Northwestern University. In 2020 he was awarded the King Faisal International Prize in
Medicine.[15] and the Harrington Prize for Innovation in Medicine. In 2021, he received the Gruber Prize
in Genetics. In 2022 he was a recipient of the Canada Gairdner International Award. Orkin was selected
as the third recipient of the Elaine Redding Brinster Prize in Science or Medicine. In 2024 he was
awarded the Shaw Prize.[16] Orkin's name was included in the Time 2024 influential people in health
list.[17]
Personal
Orkin has been married for more than 50 years and has one daughter.[2]
References
1. "Lazarus A. Orkin, Physician, 81" (https://www.nytimes.com/1991/07/26/obituaries/lazarus-a
-orkin-physician-81.html). New York Times. July 26, 1991.
2. Kazazian, Haig (March 2015). "2014 William Allan Award Introduction: Stuart Orkin" (https://
www.ncbi.nlm.nih.gov/pmc/articles/PMC4375625). American Journal of Human Genetics. 96
(3): 352–353. doi:10.1016/j.ajhg.2014.11.018 (https://doi.org/10.1016%2Fj.ajhg.2014.11.01
8). PMC 4375625 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375625).
PMID 25748350 (https://pubmed.ncbi.nlm.nih.gov/25748350).
3. "Stuart H. Orkin, MD" (http://www.dfhcc.harvard.edu/insider/member-detail/member/stuart-h-
orkin-md/). Dana–Farber/Harvard Cancer Center. Retrieved November 11, 2015.
4. "Stuart Orkin, MD" (http://hsci.harvard.edu/people/stuart-orkin-md). Harvard Stem Cell
Institute. Retrieved November 11, 2015.
5. "Stuart H. Orkin, MD" (http://www.hhmi.org/scientists/stuart-h-orkin). Howard Hughes
Medical Institute. Retrieved November 11, 2015.
6. "ASHG honors Stuart H. Orkin with William Allan Award" (http://www.ashg.org/press/201406
-allan-award.html). American Society of Human Genetics. June 26, 2014. Retrieved
November 11, 2015.
7. "BBS Faculty Member – Stuart Orkin" (http://www.hms.harvard.edu/dms/bbs/fac/orkin.php).
Harvard Medical School. Retrieved November 11, 2015.
8. Goldberg, Carey (September 21, 2015). "In step toward genetic fix, scientists pinpoint
'Achilles heel' of sickle cell disease" (http://commonhealth.wbur.org/2015/09/sickle-cell-disea
se-genetic-fix). WBUR-FM. Retrieved November 11, 2015.
9. "E. Mead Johnson Award in Pediatric Research" (https://www.aps-spr.org/SPR/Awards/EMJ/
PastRecipients.asp). American Pediatric Society. Retrieved November 11, 2015.
10. "Stuart H. Orkin" (http://www.nasonline.org/member-directory/members/18963.html?referrer
=https://www.google.com/). National Academy of Sciences. Retrieved November 11, 2015.
11. "IOM Member- Stuart H. Orkin, M.D." (http://iom.nationalacademies.org/Global/Directory/Det
ail.aspx?id=0000018963) Institute of Medicine. Retrieved November 11, 2015.
12. "1993 Recipient: Stuart H. Orkin" (http://www.warrenalpert.org/prize-recipients/stuart-h-orki
n). Warren Alpert Foundation. Retrieved November 11, 2015.
13. "Legends in Hematology" (http://www.hematology.org/About/History/Legends.aspx).
American Society of Hematology. Retrieved November 11, 2015.
14. "APS Member History" (https://search.amphilsoc.org/memhist/search?creator=Stuart+H.+Or
kin&title=&subject=&subdiv=&mem=&year=&year-max=&dead=&keyword=&smode=advanc
ed). search.amphilsoc.org. Retrieved 2021-02-08.
15. International King Faisal Prize 2020 (https://kingfaisalprize.org/)
16. Shaw Prize 2024 (https://www.shawprize.org/news/announcement-press-conference-2024-p
ress-release/)
17. Park, Alice (2024-05-02). "Stuart Orkin" (https://time.com/6966804/stuart-orkin-3/). TIME.
Retrieved 2024-09-19.
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Stuart Holland Orkin is an American physician, stem

Honors and awards

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