Principal Investigator:
Evan Braunstein, M.D., Ph.D.
Department:
Medicine
Dr. Braunstein's research focuses on inherited predisposition to hematologic diseases. His laboratory studies the inherited genetic changes in DNA that increase susceptibility to disease. Blood cancers such as myeloproliferative neoplasms and myelodysplastic syndromes are traditionally thought to be acquired disorders, however there is increasing evidence that inherited genetic changes play a role. In addition, Dr. Braunstein studies non-malignant blood diseases including atypical hemolytic uremic syndrome (aHUS) and related thrombotic disorders such as APLS, TTP and HELLP syndrome which are caused in part by genetic mutations. His work has identified a germline variants in the ERBB genes that predispose to hematologic malignancies. In addition, his research group found that patients with catastrophic APLS and HELLP syndrome frequently harbor germline mutations in complement regulatory genes. This has led directly to clinical trials designed to test the efficacy of complement inhibition in patients with these disorders. Dr. Braunstein continues to work toward translating the scientific findings from the laboratory into improved care and treatment for patients.
Research Areas: Myeloproliferative neoplasms, complement disorders