Is the Principal Investigator of the inherited bone marrow failure syndrome (IBMFS) program. She is board certified in pediatrics and pediatric hematology/oncology and has been studying bone marrow failure syndromes for three decades.
Leads the telomere biology disorders, including dyskeratosis congenita, section of the IBMFS program. She supervises all genetic studies in the program and has identified several new genes associated with the IBMFS. Dr. Savage is board certified in pediatrics and pediatric hematology/oncology.
Is the lead clinician of the IBMFS program and is board certified in pediatrics and pediatric hematology/oncology. She is an expert in the diagnosis and clinical aspects of all IBMFS. Dr. Giri leads collaborative studies of the clinical complications of the IBMFS, including cancer.
Payal Khincha, MBBS, MSHS
Is a Staff Clinician and is board certified in pediatrics and pediatric hematology/oncology. She has training in clinical and translational research, and has interest in inherited cancer predisposition syndromes, particularly those affecting children. Dr. Khincha works on the clinical aspects of DC and the telomere biology disorders.
Lisa J. McReynolds, MD, PhD
Is a clinical fellow working with the IBMFS program since 2016. She is board certified in pediatrics and pediatric hematology/oncology. She is involved in the genomic aspects of the study both clinical and research.
Matthew Gianferante, MD, MPH
Is a clinical fellow in the IBMFS program and focuses on genetic analysis in Diamond Blackfan anemia. He is board certified in pediatrics and he is pediatric hematology oncology fellowship trained.
Moises Fiesco-Roa, MD
Is a certified medical geneticist, who is working with the IBMFS since 2017 under the mentorship of Blanche Alter and Neelam Giri. He is investigating phenotype-genotype correlation in Fanconi anemia individuals and is also working to create a national registry of Fanconi anemia individuals in Mexico.
Lauren Vasta, MD
Is a clinical fellow who is studying the clinical outcomes of cancer treatment therapy in individuals with telomere biology disorders.
Ann Carr, MS, CGC
Is a certified genetic counselor with over 30 years of experience in prenatal, pediatric, and cancer genetic counseling. She has worked with the IBMFS study since 2001 and provides genetic education, counseling, and disclosure of test results for the participating families.
Lisa Leathwood, RN, BSN
Is the lead research nurse and study manager for the IBMFS study. She has worked with the study since 2001 and serves as a liaison between the study investigators and study participants, collaborating physicians, and laboratories. She is also responsible for overseeing and coordinating data collection for the study.
Maureen Risch, RN, BSN
Is the clinical research nurse for the IBMFS study. She has worked with the study since 2010 and facilitates local specimen collection and coordinates the clinical evaluations for families in the clinic cohort.
Gloria Chu, BS
Is the senior research assistant for the IBMFS study. She has worked with the study since 2011 and works with the nurses to assist with data collection, coordinating clinic evaluations, and specimen tracking.
Sonia Bhala, BS
Is a post-baccalaureate fellow completing a two-year research fellowship on the clinical and epidemiologic studies of dyskeratosis congenita and other inherited telomere biology disorders. She is especially interested in studying the neurologic and psychiatric consequences of short telomeres.
Ashley Thompson, BS
Is a post-baccalaureate fellow interested in the genomic aspects of the IBMFS study. She has worked with the study since summer 2018 and hopes to attend medical school after her time at the NIH.
Is the project coordinator for the IBMFS study. She has worked with the study since 2018 as a protocol specialist.
How can I join?
Individuals with one of the inherited bone marrow failure syndromes and their family members are encouraged to participate.
Phone: 1-800-518-8474 to speak with the referral nurse