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Amy Fan is an Immunology PhD candidate in Dr. Ravi Majeti's lab, with research interests in immunology, stem cell biology, and cancer. Her thesis work investigates the mechanism of blood cancer progression in patients with inherited mutations in the RUNX1 gene. Prior to joining Stanford in 2016, she earned her B.S. in Biology from MIT and worked for two years at the Broad Institute of MIT & Harvard. Outside of lab, she devotes time to teaching, mentoring, and diversity advocacy, and she likes to relax by dancing, hiking, and painting.
Germline mutations in RUNX1 cause an autosomal dominant disorder characterized by lifelong thrombocytopenia and increased risk of progression to acute myeloid leukemia (AML). Indeed, unlike sporadic AML, which commonly presents in the elderly, the average age of onset for RUNX1 familial AML cases is 35, with over one-third of patients developing leukemia as a child. While megakaryocyte defects have been shown to be a cell-autonomous effect of RUNX1 mutations in hematopoietic stem and progenitor cells (HSPCs), the mechanisms by which germline RUNX1 mutations progress to leukemia remains unclear. Interestingly, RUNX1 is also expressed in bone marrow mesenchymal stromal cells (BM-MSCs), which have been shown to contribute to the pathogenesis of some hematopoietic malignancies. The goal of my thesis research is to determine how RUNX1 mutations may be contributing to leukemogenesis through both cell autonomous and non-autonomous mechanisms.