Genetic Testing and the Implications for Future Therapies Genetic Testing for Inherited Marrow Failure
4/24/2017 Personalized Medicine: What This Talk Will Cover Genetic Testing and the Implications for Future Therapies Genetic testing for inherited marrow failure . General background: What are gene mutations? . Risk and severity: Do all people with inherited mutations develop disease? National Patient and Living with . How does medical genetic testing differ from commercially available testing? Aplastic Anemia, Family Conference MDS or PNH Las Vegas, NV April 22, 2017 Cytogenetic testing in Bone Marrow Failure Genomic profiling of bone marrow cells in MDS and AA for acquired mutations Implications for diagnosis, prognosis and therapies Katherine R. Calvo, M.D., Ph.D. Department of Laboratory Medicine, Clinical Center National Institutes of Health Benefits and Limitations of Genetic Testing and Genomic Profiling Bethesda, Maryland Bone marrow failure syndromes: How can genetic testing help to distinguish and guide therapy? AA/PNH Part One: PNH LGL Autoimmune SDS Disease: AA MS, IBD, uveitis, HYPOCELLULAR Genetic Testing for DM type 1, etc. TELOMERE MDS (DKC) GATA2 MDS AML Inherited Marrow Failure FA Acquired AA SDS AA, aplastic anaemia; AID, autoimmune disease; AML, acute myelogenous leukemia; DKC, dyskeratosis congenita; IBD, inflammatory bowel disease; LGL, large granular lymphocyte leukemia; GATA2, Gata2 deficiency; FA, Fanconi anemia; SDS, Shwachman–Diamond syndrome; MDS, myelodysplastic syndrome; MS, multiple sclerosis; DM, diabetes mellitus; PNH, paroxysmal nocturnal hemoglobinuria Modified from Young NS, et al. Blood 2006;108:2509–19
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