Philip Mason, Ph.D.

Philip Mason, Ph.D.

Professor of Pediatrics

Department of Pediatrics

The Children's Hospital of Philadelphia
Abramson Research Center
3615 Civic Center Blvd, Room 302E
Philadelphia, PA 19104

(267)426-9327

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Biography

We are a molecular hematology lab interested in the pathogenesis of bone marrow failure (BMF) syndromes, with particular emphasis on Dyskeratosis Congenita (DC) and Diamond Blackfan Anemia (DBA). Our experiments have led us into investigations of basic biological mechanisms of telomere maintenance, which underlies DC and ribosome biogenesis and is faulty in DBA. We use mutant mice, induced pluripotent stem cells (iPSCs), tissue culture cells, and cells from consented patients in our studies. We are interested in how the mutations in DC and DBA perturb telomere maintenance and ribosome biogenesis, and in the mechanisms by which the perturbations cause failure of hematopoiesis. Our studies may be relevant to how both these conditions lead to an increased risk of leukemia and other malignancies.