Our understanding of the mechanisms driving bone marrow failure has increased substantially over time. While these are rare disorders, these insights are critical for patient management and for understanding bone marrow pathophysiology in general. In this session, we will highlight some of the latest discoveries in the field.
Dr. Agata Smogorzewska will review the genetics of Fanconi anemia and the mechanism of DNA repair that fails in the disease. She will also discuss new insights into the endogenous sources of DNA damage associated with DNA replication that when left un-repaired lead to bone marrow failure and leukemia.
Dr. Jeffery Klco will discuss germline mutations in two interferon-inducible genes located on human chromosome 7 (SAMD9 and SAMD9L), which have been reported in pediatric, as well as adult myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) and bone marrow failure syndromes. The mechanisms of how these mutations result in abnormal hematopoiesis and potentially lead to MDS/AML are currently under investigation and will be discussed.
Dr. Katherine MacNamara will discuss novel mechanisms through which interferons contribute to bone marrow failure and aplastic anemia. Interferons are protective during many infections by driving expression of antimicrobial effector molecules, but also contribute to hematopoietic suppression through direct effects on hematopoietic cells as well as alterations to the bone marrow microenvironment.
Dr. Jennifer Trowbridge will highlight the discovery of novel factors and mechanisms causing HSC aging. She will address the relevance of these processes and mechanisms to bone marrow failure development as well as how they may be manipulated to prevent physiological aging and disease.