Timothy Graubert, MD

Dr. Graubert’s research focuses on the molecular pathogenesis of myeloid leukemias. While at Washington University in St. Louis, he and his colleagues used genome sequencing technology extensively to gain insights into the genetic basis of human cancer and to use this information to improve risk stratification tools and identify targets for novel therapy.  Their group published the first complete genome sequence of a human cancer (acute myeloid leukemia) in 2008 and in subsequent publications described novel recurrent mutations in IDH2 and DNMT3A that have prognostic significance in acute myeloid leukemia.  Dr. Graubert’s research group identified novel mutations in U2AF1 in patients with myelodysplastic syndrome, helping to open a new line of investigation into the role of splicing gene mutations in the pathogenesis and treatment of myeloid leukemias.  Dr. Graubert also led the group that performed the first whole genome sequencing studies in myelodysplastic syndrome that led to new understanding of how this disease is initiated and then evolves when patients progress to acute leukemia.  In 2013, Dr. Graubert moved to Massachusetts General Hospital where he directs the Hematologic Malignancy Program.  Currently, research in the Graubert laboratory is focused on two main projects: 1) understanding the mechanism of spliceosome-mutant MDS/AML, and 2) the molecular genetics of familial MDS/AML.