Stuart Orkin, M.D.
Boston Children's Hospital
Howard Hughes Medical Institute
The Orkin lab studies the genetic basis of blood disorders. They investigate the development and function of the blood system, the relationship between cancer and stem cells, and the mechanisms responsible for self-renewal of stem cells and the switch from fetal to adult hemoglobin.
The laboratory utilizes multidisciplinary approaches to understand how mammalian cells choose specific fates and how mutations in important transcriptional regulators lead to developmental defects or malignancy.
Recent and ongoing work falls into several overlapping areas:
- While many of the essential hematopoietic transcription factors are identified, how they act in the context of other factors within progenitors is less well understood. Hence, we are using biochemical and molecular approaches to address the function of these factors.
- We are exploring the role of epigenetic modifiers in the biology of hematopoietic stem cells (HSCs), individual hematopoietic lineages, and pluripotent ES cells.
- We study the pathogenesis of leukemia and one solid tumor, osteosarcoma, using engineered mice and genomic methods. These studies include modeling one form of infant leukemia in iPS cells.
- We have defined the transcription factors critical to developmental regulation of the human globin genes, and are pursuing approaches to the reactivation of the fetal globin genes in adults as a means of therapy for the frequent hemoglobin disorders, sickle cell anemia and beta-thalassemia. Many of the studies in the laboratory have recently employed genetic and chemical screens using complex libraries.
Stuart Orkin is the David G. Nathan Distinguished Professor of Pediatrics at Harvard Medical School, a member of the National Academy of Sciences and the Institute of Medicine, and a Howard Hughes Medical Institute Investigator
B.S. in Life Sciences at MIT (1967) and M.D. from Harvard Medical School (1972). Research Associate, US Public Health Service (1973-75), Asst. Prof to Professor, Harvard Medical School (1978-1986). Leland Fikes Professor, HMS (1986-2000), David G. Nathan Professor (2000-present) and Chairman of the Department of Pediatric Oncology, DFCI. Member: NAS, IOM, and AAAS. Recipient: AFCR Award (1984), Dameshek Prize of the ASH (1986), Mead-Johnson Award (1987), Warrent Alpert Prize (1993), Helmut Horten Research Award (1995), E. Donnell Thomas Prize of the ASH (1998) and Basic Science Mentor Award (2009), Distinguished Research Award of the AAMC (2005). Chair of the Grants Review Panel of the State of California Stem Cell Institute (2005-2008). Donald Metcalf Award of the International Society of Experimental Hematology (2012).
- In Our Blood: A Profile of Stuart Orkin - article in The New Scientist
- At 16, she's a pioneer in the fight against blood disease - article in the New York Times
- Approval of First ‘Epigenetic’ Drug for a Solid Tumor is Milestone