Description
Inherited genetic causes of pediatric bone marrow failure and myelodysplastic syndromes (MDS) are more common than previously recognized and profoundly impact medical management and treatment. Akiko Shimamura, M.D., Ph.D., is a Professor of Pediatrics at Harvard Medical School, holds the Samuel E. Lux IV Chair in Hematology/Oncology, and directs the Bone Marrow Failure and Myelodysplastic Syndrome Program at the Dana-Farber/Boston Children's Cancer and Blood Disorders Center. Shimamura was drawn to these young patients with rare diseases because of her belief that they deserve the same level of medical care and the same chance at a healthy life as anybody else. “I tell the families that we are going to look really hard for answers for them,” Shimamura said. “But I also tell them that if the state of current medical knowledge is not sufficient for us to find answers for them now, we do not give up.” She conducts translational research spanning basic science to clinical studies. Her work identified new genes causing marrow failure and MDS, and provided early evidence to support genetic testing for extremely rare forms of these conditions. Her lab is investigating novel therapeutic approaches, and she has developed clinical trials for these disorders. Studies of these rare genetic disorders have yielded fundamental insights into the basic biology of blood cell development and clonal evolution.
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