Company description
I am a Professor of Pediatrics at Zucker School of Medicine, Head of the Bone Marrow Failure Program and Attending Physician in the Division of Hematology/Oncology and Stem Cell Transplantation at the Cohen Children's Medical Center. The goal of my long-standing research has been to promote the understanding of Diamond Blackfan Anemia (DBA), a rare, inherited bone marrow failure syndrome, by studying the epidemiology, pathophysiology, and genetics of the syndrome. I am Director of the Diamond Blackfan Anemia Registry (DBAR) of North America. The DBAR received 14 years of R01 funding from the National Institutes of Health/National Heart, Lung and Blood Institute. The patients in the DBAR are extensively characterized clinically, phenotypically, genetically, and biochemically. These data along with the DBA DNA Biorepository have been instrumental in the discovery of 11 DBA ribosomal protein genes, making DBA the first described human disorder of ribosome dysfunction. I am also a member of the Medical and Scientific Advisory Board for the Shwachman Diamond Syndrome Registry and hold a position on the Scientific Program Committee for Bone Marrow Failure of the American Society of Hematology.
