Stuart Holland Orkin is an American physician, stem cell biologist and researcher in pediatric hematology-oncology. He is the David G. Nathan Distinguished Professor of Pediatrics at

Harvard Medical School Harvard Medical School (HMS) is the medical school of Harvard University and is located in the Longwood Medical and Academic Area, Longwood Medical Area in Boston, Massachusetts. Founded in 1782, HMS is the third oldest medical school in the Un ...

. Orkin's research has focused on the genetic basis of blood disorders. He is a member of the

National Academy of Sciences The National Academy of Sciences (NAS) is a United States nonprofit, NGO, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the ...

and the

Institute of Medicine The National Academy of Medicine (NAM), known as the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, Engineerin ...

, and an Investigator of the Howard Hughes Medical Institute.

Early life

Orkin grew up in

Manhattan Manhattan ( ) is the most densely populated and geographically smallest of the Boroughs of New York City, five boroughs of New York City. Coextensive with New York County, Manhattan is the County statistics of the United States#Smallest, larg ...

, where his father was a

urologist Urology (from Greek οὖρον ''ouron'' "urine" and ''-logia'' "study of"), also known as genitourinary surgery, is the branch of medicine that focuses on surgical and medical diseases of the urinary system and the reproductive organs. Org ...

. He studied biology as an undergraduate (B.S., 1967) at the

Massachusetts Institute of Technology The Massachusetts Institute of Technology (MIT) is a Private university, private research university in Cambridge, Massachusetts, United States. Established in 1861, MIT has played a significant role in the development of many areas of moder ...

and earned a medical degree from

in 1972. He did postdoctoral research in

molecular biology Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactio ...

at the

National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...

under geneticist

Philip Leder Philip Leder (November 19, 1934 – February 2, 2020) was an American geneticist. Early life and education Leder was born in Washington, D.C., and studied at Harvard University, graduating in 1956. In 1960, he graduated from Harvard Medical Sch ...

. While Orkin was completing his training in hematology-oncology, his department chair, David G. Nathan, allowed him to establish his own research laboratory.

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. He has been on the Harvard Medical School faculty since the late 1970s and has been a

Howard Hughes Medical Institute The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization headquartered in Chevy Chase, Maryland with additional facilities in Ashburn, Virginia. It was founded in 1953 by Howard Hughes, an American busin ...

investigator since 1986. In the 1970s and 1980s, Orkin conducted research that identified genetic mutations associated with a group of blood disorders known as the

thalassemia Thalassemias are a group of Genetic disorder, inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild to ...

s. 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 Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the react ...

, marking the first time that a disease-causing gene was cloned without the researchers already knowing the protein coded by the gene. Today, his research lab examines

transcriptional regulators Regulation of gene expression, or gene regulation, includes a wide range of mechanisms that are used by cells to increase or decrease the production of specific gene products (protein or RNA). Sophisticated programs of gene expression are wide ...

of cell specification and differentiation. 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 Nature is an inherent character or constitution, particularly of the Ecosphere (planetary), ecosphere or the universe as a whole. In this general sense nature refers to the Scientific law, laws, elements and phenomenon, phenomena of the physic ...

'' showing a small section of DNA which could be responsive to

gene therapy Gene therapy is Health technology, medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. The first attempt at modifying human DNA ...

for

sickle-cell disease Sickle cell disease (SCD), also simply called sickle cell, is a group of inherited haemoglobin-related blood disorders. The most common type is known as sickle cell anemia. Sickle cell anemia results in an abnormality in the oxygen-carrying ...

. 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. Elected to the

in 1991, Orkin won the Jessie Stevenson Kovalenko Medal from that organization in 2013. He was elected to the

in 1992. In 1993, he received the

Warren Alpert Foundation Prize The Warren Alpert Foundation Prize is awarded annually to scientist(s) whose scientific achievements have led to the prevention, cure or treatment of human diseases or disorders, and/or whose research constitutes a seminal scientific finding that h ...

. The

American Society of Hematology The American Society of Hematology (ASH) is a professional organization representing hematologists, founded in 1958. Its annual meeting is held in December of every year and has attracted more than 30,000 attendees. The society publishes the medi ...

named Orkin one of its Legends in Hematology in 2008. The

American Society of Human Genetics The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The society's members include researchers, ...

honored Orkin with the 2014 William Allan Award, which recognizes sustained and significant contributions to human genetics. In 2017, he was elected to membership in the

American Philosophical Society The American Philosophical Society (APS) is an American scholarly organization and learned society founded in 1743 in Philadelphia that promotes knowledge in the humanities and natural sciences through research, professional meetings, publicat ...

, and in 2018 he received the George M. Kober Medal of the

Association of American Physicians The Association of American Physicians (AAP) is an honorary medical society founded in 1885 by the Canadian physician Sir William Osler and six other distinguished physicians of his era for "the advancement of scientific and practical medicine ...

and the Mechthild Esser Nemmers Prize in Medical Science from Northwestern University. In 2020 he was awarded the

King Faisal International Prize The King Faisal Prize (, formerly King Faisal International Prize), is an annual award sponsored by King Faisal Foundation presented to "dedicated men and women whose contributions make a positive difference". The foundation awards prizes in fiv ...

in Medicine. and the Harrington Prize for Innovation in Medicine. In 2021, he received the

Gruber Prize in Genetics The Gruber Prize in Genetics, established in 2001, is one of three international awards worth US$500,000 made by the Gruber Foundation, a non-profit organization based at Yale University in New Haven, Connecticut. The Genetics Prize honors lead ...

. In 2022 he was a recipient of the

Canada Gairdner International Award The Canada Gairdner International Award is given annually by the Gairdner Foundation at a special dinner to five individuals for outstanding discoveries or contributions to medical science. Receipt of the Gairdner is traditionally considered a ...

. 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 The Shaw Prize is a set of three annual awards presented by the Shaw Prize Foundation in the fields of astronomy, medicine and life sciences, and mathematical sciences. Established in 2002 in Hong Kong, by Hong Kong entertainment mogul and p ...

. Orkin's name was included in the Time 2024 influential people in health list.

Personal

Orkin has been married for more than 50 years and has one daughter.

References

{{DEFAULTSORT:Orkin, Stuart 1946 births Living people American hematologists Stem cell researchers Massachusetts Institute of Technology School of Science alumni Harvard Medical School alumni Harvard Medical School faculty Howard Hughes Medical Investigators Members of the National Academy of Medicine Fellows of the American Association for the Advancement of Science Members of the American Philosophical Society Members of the United States National Academy of Sciences