2014: Victor Ambros, David Baulcombe, and Gary Ruvkun, for pioneering the study of small non-coding RNA’s, molecules that are recognized as playing a critical role in regulating gene expression.2015: Emmanuelle Charpentier and Jennifer Doudna, for establishing a framework for universal genome editing.2016: Michael Grunstein and David Allis, for the discovery of the role of histone proteins and their covalent modification in the regulation of eukaryotic gene expression.2017: Stephen Elledge, for discovering and characterizing the molecular mechanisms of the DNA damage response pathway in eukaryotic cells.2018: Joanne Chory and Elliot Meyerowitz, for helping revolutionize plant molecular biology, with implications for global agriculture, the environment, and human health and disease.2019: Bert Vogelstein, for discoveries of new genetic pathways and processes contributing to cancer.2020: Bonnie Bassler, for pioneering discoveries on bacterial communication.The Genetics Prize is presented to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. “It’s a great honor to be awarding the Gruber Genetics Prize to such an extraordinary scientist.” Orkin’s insights, elegant experiments, and tenacity, we are on the cusp of making major therapeutic breakthroughs for several inherited hematologic disorders,” says Aravinda Chakravarti, professor at New York University School of Medicine and member of the Selection Advisory Board. These stunning findings have led to the development of exciting new gene-based therapies for beta-thalassemia and sickle cell disease-therapies that have already shown clinical promise. Inactivating BCL11A in adult, genetically engineered mice reactivates expression of fetal hemoglobin and eliminates the signs of sickle cell disease.
Orkin and his team demonstrated that turning off BCL11A interferes with the silencing of fetal hemoglobin. More recently, Orkin’s laboratory identified the gene-BCL11A-that controls the switch between fetal and adult hemoglobin that occurs around the time of birth, thus solving a hematologic enigma that had long evaded scientists. Orkin then went on to isolate and characterize GATA1, a master regulator of all genes in developing red cells and the founding member of a family of GATA proteins directing differentiation of cells in many tissues. This discovery marked the first time a laboratory technique known as “positional cloning” was used to identify a gene responsible for a human disease. Orkin also identified the gene that causes another inherited blood disorder, chronic granulomatous disease. This ambitious undertaking led to the creation of the first comprehensive genetic “catalogue” of a human molecular disease.
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Through a series of seminal discoveries, he has helped to unravel key molecular mysteries behind how blood cells develop-and how inherited blood disorders occur.”Įarly in his career, Orkin identified many genetic mutations behind the various types of thalassemia, an inherited blood disorder characterized by inadequate production of the protein beta-globin, one of two chains of hemoglobin, the oxygen-carrying component of red cells. “His work has been deeply mechanistic, groundbreaking and impactful. Orkin has led the field of hematology for more than 40 years,” says Eric Olson, professor at UT Southwestern and member of the Selection Advisory Board. The prize, which includes a $500,000 award, will be presented to Orkin at the annual meeting of the American Society of Human Genetics in October. Nathan Distinguished Professor of Pediatrics at Harvard Medical School and an Investigator of the Howard Hughes Medical Institute. His remarkable body of work has not only revolutionized our understanding of how these illnesses occur but has also led to promising new gene-based therapies for thalassemia and sickle cell disease, two inherited blood disorders that affect millions of people around the world. Orkin, M.D., of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, for his pioneering discoveries of the genetic underpinnings of blood disorders. The 2021 Gruber Genetics Prize recognizes hematologist-oncologist and geneticist Stuart H.
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