Inherited and acquired bone marrow failure syndromes
Pathogenesis and genetics of clonal evolution in bone marrow failure
Translational Research in Bone Marrow Failure
Pediatric –Adult Transition
Comparative proteomics of the red blood cell in health and diease
Aplastic anemia, myelodysplastic syndrome (MDS), Paroxysmal nocturnal hemoglobinuria (PNH), Dyskeratosis congenita, Diamond Blackfan Anemia (DBA), Shwachman Diamond Syndrome (SDS), Neutropenia, translational research, pediatric-adult transition, Orphan disease, genomics, proteomics, telomerase, ribosome biogenesis.
Research Projects 2012
1. Defective telomere maintenance in bone marrow failure
2. Clonal evolution in bone marrow failure
3. Investigations of bone marrow failure syndromes using induced
pluripotent stem cells and mouse models.
4. Changes in the red cell proteome in health and disease
5. Pediatric–Adult Transition for patients with bone marrow failure
Description of Research