509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Poster II

Germline variant database and visualization platform for BMF and hematologic malignancy predisposition syndromes BMFgenes1 0

The somatic hotspot mutation of DDX41 p R525H elicits dominant negative effects upon non truncating germline variants explaining similar disease risk as truncating variants

Luspatercept rescues the disease phenotype of a congenital dyserythropoietic anemia type II patient and an in vitro patient derived iPSC erythroid differentiation model

A subset of myeloid progenitors drives leukemogenesis in familial CEBPA mutated acute myeloid leukaemia

Genoprime Perturb seq Functional dissection of GATA2 variants via simultaneous Genotyping coupled Prime editing Perturb seq

Increased prevalence and severity of cardiac iron overload in transfusion dependent diamond blackfan anemia syndrome caused by small versus large ribosomal subunit mutations

Mitochondrial dysfunction as a key factor in the predisposition to 14q32 related myeloid hematological malignancies

Rapid hematologic germline testing using hair follicle derived DNA for germline predisposition and inherited marrow failure states