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 graduate medical school of Harvard University and is located in the Longwood Medical Area of Boston, Massachusetts. Founded in 1782, HMS is one of the oldest medical schools in the United States and is consi ...

. 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, 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 Nati ...

and the

Institute of Medicine The National Academy of Medicine (NAM), formerly called 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, E ...

, and an Investigator of the Howard Hughes Medical Institute.

Early life

Orkin grew up in Manhattan, where his father was a urologist. He studied biology as an undergraduate (B.S., 1967) at 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 ...

and earned a medical degree from

in 1972. He did postdoctoral research in

molecular biology Molecular biology is the branch of biology that seeks to understand the molecular basis of biological activity in and between cells, including biomolecular synthesis, modification, mechanisms, and interactions. The study of chemical and physi ...

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 ...

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.

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 based in Chevy Chase, Maryland. It was founded in 1953 by Howard Hughes, an American business magnate, investor, record-setting pilot, engineer, fil ...

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 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. 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. 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, in the broadest sense, is the physics, physical world or universe. "Nature" can refer to the phenomenon, phenomena of the physical world, and also to life in general. The study of nature is a large, if not the only, part of science. ...

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

gene therapy Gene therapy is a medical field which focuses on the genetic modification of cells to produce a therapeutic effect or the treatment of disease by repairing or reconstructing defective genetic material. The first attempt at modifying human DN ...

for

sickle-cell disease Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blo ...

. 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 The E. Mead Johnson Award, given by the Society for Pediatric Research, was established in 1939 to honor clinical and laboratory research achievements in pediatrics. The awards are funded by Mead Johnson, Mead Johnson Nutritionals, a subsidiary of ...

. Elected to the

in 1991, Orkin won the

Jessie Stevenson Kovalenko Medal The Jessie Stevenson Kovalenko Medal is awarded every two years by the US National Academy of Sciences "for important contributions to the medical sciences." It was first awarded in 1952 and involves a prize of $25,000 plus $50,000 for research. ...

from that organization in 2013. He was elected to the

in 1992. In 1993, he received the Warren Alpert Foundation Prize. The

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

named Orkin one of its Legends in Hematology in 2008. The American Society of Human Genetics honored Orkin with the 2014

William Allan Award The William Allan Award, given by the American Society of Human Genetics, was established in 1961 in memory of William Allan (1881–1943), one of the first American physicians to conduct extensive research in human genetics. The William Allan ...

, 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), founded in 1743 in Philadelphia, is a scholarly organization that promotes knowledge in the sciences and humanities through research, professional meetings, publications, library resources, and communit ...

, and in 2018 he received the

George M. Kober Medal 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." ...

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.International King Faisal Prize 2020
/ref> and the Harrington Prize for Innovation in Medicine. In 2021, he received the Gruber Foundation 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.

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