Dr. Schwartz’s research studies seek to understand the molecular mechanisms and pathogenesis underlying pediatric myelodysplastic syndromes (MDS), specifically those syndromes caused by germline mutations in SAMD9 and SAMD9L. His current focus is to better understand the biological consequences of SAMD9 and SAMD9L mutations in MDS through genomic and functional investigations in an induced pluripotent stem cell (iPSC) model system of pediatric MDS. Additionally, Dr. Schwartz hopes to describe the mechanisms and clonal evolution that underlie the SAMD9/9L-mediated development of monosomy 7 and, in some patients, subsequent spontaneous hematopoietic recovery through single-cell multi-omics. The knowledge gained from a deeper understanding of how SAMD9/9L mutations and chromosome 7 loss effects hematopoiesis and how these lesions clonally evolve over time will lead to the ability to deeply surveil patients with predispositions to develop MDS/AML. Thus, resulting in the ability to predict which patients may not need bone marrow transplant (particularly some of those patients with germline SAMD9/9L mutations), but also identify which patients are at highest risk of AML development such that transplant can occur prior to the development of malignancy.