Dr. Stuart H Orkin is the David G. Nathan Distinguished Professor of Pediatrics at Harvard Medical School, and an HHMI Investigator at Boston Children’s Hospital. Orkin has defined the molecular basis of human blood disorders and mechanisms governing blood cell development. Previously he served as Chairman of the Department of Pediatric Oncology at the Dana Farber Cancer Institute from 2000-2016. He received a BS from MIT and an MD from Harvard Medical School. He provided the first comprehensive molecular dissection of an inherited disorder (the thalassemia syndromes), and characterized genes responsible for other human blood disorders, including X-linked chronic granulomatous disease (the first positional cloning). Orkin identified the first hematopoietic transcription factors (the GATA family) and characterized their roles in blood cell development and cancer. His studies of BCL11A, a repressor of fetal hemoglobin (HbF), have illuminated regulation of globin gene switching and improved prospects for HbF reactivation as therapy of the thalassemias and sickle cell disease. Dr. Orkin is an elected member of the National Academy of Sciences (NAS), National Academy of Medicine (NAM), American Academy of Arts and Sciences, and the American Philosophical Society. He has received several awards, including the Kovalenko Medal of the NAS, King Faisal Prize in Medicine, Harrington Prize for Innovation in Medicine, and the Gruber Prize in Genetics.

Research Interests

The Orkin laboratory has been engaged in molecular developmental biology and stem cell research for nearly 4 decades and has been a training site for many students and fellows (> 80). The research largely focuses on embryonic stem cells and the blood system, where we have defined important transcription factors, epigenetic regulators, and the switch from fetal to adult hemoglobin. A major goal of current efforts is to translate our basic findings on the role of BCL11A in HbF silencing into new clinical treatments. Findings have already been used as the basis for gene therapy and gene editing trials for the hemoglobinopathies. The development of small molecule inhibitors is a longer term project that requires interdisciplinary research, utilizing protein chemistry, molecular biology, and cellular approaches, and has the potential to address disease burden on a global scale.

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Section 41: Medical Genetics, Hematology, and Oncology