Doctoral training
Molecular pathology of Diamond-Blackfan anemia.
Diamon-Blacfan anemia is a rare congenital red cell aplasia, often associated with congenital malformations, particularly of upper limbs and craniofacial region. As a cause, mutations in genes for ribosomal proteins have been reported in approximately 50% of the cases. Mutations in ribosomal proteins lead to defects during ribosome biogenesis and thus ribosome stress, which in turn leads to cell cycle arrest or apoptosis in erythroid progenitors.In my study, I focus on discovering and validation of new possible molecular causes of Diamond-Blackfan anemia and other ribosomopathies by NGS approach followed by functional studies of chosen genes.
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