| 1 | Name: | Dr. Stuart H. Orkin | |
| Institution: | Harvard University; Howard Hughes Medical Institute | ||
| Year Elected: | 2017 | ||
| Class: | 2. Biological Sciences | ||
| Subdivision: | 204. Medicine, Surgery, Pathology and Immunology | ||
| Residency: | Resident | ||
| Living? : | Living | ||
| Birth Date: | 1946 | ||
Stuart Orkin has made pioneering achievements in defining the molecular basis of blood disorders and fundamental regulatory mechanisms governing the development of blood stem cells and blood lineages. His research is unmatched for its combined impact on our understanding of the genetic basis of blood diseases, the control of hematopoiesis, and the basis of the human fetal (HbF) to adult hemoglobin switch. He provided the first comprehensive molecular dissection of an inherited disorder, the thalassemia syndromes, and isolated the first regulator of blood cell development (GATA1). He identified the first disease gene (X-linked chronic granulomatous disease) through positional cloning. In the past decade, he defined how HbF is silenced in adult red cells starting with genome-wide association studies (GWAS) through to gene editing, work that forms the basis for therapeutic trials to reactivate HbF in thalassemia and sickle cell disease patients. His research is a paradigm for the application of molecular genetics to medicine. In 2018 he was the recipient of the Mecthild Esser Nemmers Prize in Medical Science, in 2020 he was awarded the King Faisal Prize in Medicine, and in 2021 he was awarded the 2021 Gruber Genetics Prize. | |||