Janis L. Abkowitz, MD

The major focus of Dr. Abkowitz’s research is understanding the molecular and cellular events that control red cell differentiation. Given her observation that the severe macrocytic anemia of Diamond Blackfan anemia (DBA) and myelodysplastic syndrome with isolated deletion of chromosome 5q (del(5q) MDS), disorders associated with ribosomal protein haploinsufficiency, results from inadequate ribosome number and function, slowed initiation of globin synthesis, a relative excess of heme and ROS, and subsequent cell demise (Science Translational Medicine, 2016), her lab is especially interested in understanding how heme coordinates with globin during normal erythropoiesis and in ineffective erythropoiesis more broadly. As examples, she has investigated heme signaling in single cell RNA seq studies of murine models, and is extending these studies to normal, DBA and MDS patient marrow samples.

Dr. Abkowitz's other research interest is understanding hematopoietic stem cell (HSC) kinetics, in part by the mathematical modeling of cell fate-decisions using stochastic methods (a collaboration with Peter Guttorp, PhD and colleagues). This work allows insights into HSC differentiation during normal hematopoiesis, the pathophysiology of aplastic anemia, the pathophysiology of CHIP (clonal hematopoietic of indeterminate potential), and the clonal evolution and progression of myeloproliferative disorders.