Study Team

This study has been designed by, and is being run by, a team of investigators from the Clinical Genetics Branch (CGB) of the National Cancer Institute.

Blanche P. Alter, MD, MPH 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 persons with bone marrow failure syndromes and their risk of cancer for many years.

Sharon A. Savage, MD leads the dyskeratosis congenita section of the IBMFS program. She supervises the molecular genetic studies of any of the syndromes in the program and has identified several new genes in these disorders. Dr. Savage is board certified in pediatrics and pediatric hematology/oncology.

Neelam Giri, MD, MBBS is the Staff Clinician of the IBMFS program and is board certified in pediatrics and pediatric hematology/oncology. She is interested in the clinical aspects of the participants and their association with cancer.

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.

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How can I join?

Individuals with one of the [glossary term:] inherited bone marrow failure [glossary term:] syndromes and their family members are encouraged to participate.

Phone: 1-800-518-8474 to speak with the referral nurse
Email: NCI.IBMFS@westat.com