Study Team
The IBMFS Study Team, at the Clinical Genetics Branch Picnic at Seneca Creek State Park, June 2021
Pictured above, from front left to top right
Front row from left: Stephanie Steinbart, Blanche Alter, Neelam Giri
Middle row from left: Maryam Rafati, Jessica Bayer, Lisa McReynolds, Ann Carr, Maureen Risch, Lisa Leathwood
Back row from left: Matthew Gianferante, Burak Altintas, Sharon Savage, Marena Niewisch
Dr. Giri is the principal investigator of the IBMFS program and 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.
Dr. Savage leads the telomere biology disorders, including the 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.
Dr. McReynolds is a pediatric hematologist/oncologist and an assistant clinic investigator working with the IBMFS program since 2016. She is involved in the genomic aspects of the study both clinical and basic science research. She is board certified in pediatrics and pediatric hematology/oncology.
Matthew Gianferante, MD, MPH
Dr. Gianferante is a commissioned officer in the United States Public Health Service. He is a pediatric hematologist/oncologist and a staff clinician in the IBMFS program. Dr. Gianferante focuses on the clinical and genomics studies in Diamond Blackfan anemia in the IBMFS cohort. He is board certified in pediatrics and pediatric hematology/oncology.
Maryam Rafati, MD, PhD
Dr. Rafati is a medical geneticist working on novel IBMFS gene and variant discovery.
Marena Niewisch, MD
Dr. Niewisch is a pediatric hematologist/oncologist in Hanover, Germany. She was a post-doctoral fellow in CGB until 2021 and now works with the program as a special volunteer.
Dr. Rising is a post-doctoral fellow co-leading the psychosocial study for dyskeratosis congenita and related telomere biology disorders.
Catherine Wilsnack, MSW, LMSW
Ms. Wilsnack is a special volunteer. She is currently a doctoral student and is co-leading the psychosocial study for dyskeratosis congenita and related telomere biology disorders.
Sonia Bhala, BS
Ms. Bhala is a a 3rd year medical student at Rutgers Robert Wood Johnson Medical School who completed her Postbaccalaureate fellowship in Telomere Biology Disorders under the mentorship of Dr. Sharon Savage in 2019. She is now a Special Volunteer and continues to be involved in the program.
Ann Carr, MS, CGC
Ms. Carr 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.
Debbie Flamish, MA
Ms. Flamish is a research assistant helping with many logistical aspects of the study.
Lisa Leathwood, RN, BSN
Ms. Leathwood 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
Ms. Risch 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.
Ms. Hendricks is a post-baccalaureate fellow working on gene discovery in the IBMFS.
Ashley Thompson, BS
Ms. Thompson is a genetic counseling graduate student at Bay Path University. She studied genetics of telomere biology disorders and is now a part of the psycho-social research team.
Dr. Alter was the founder of the NCI IBMFS Study and is now retired from NCI. She continues to be involved as a Special Volunteer. She is board certified in pediatrics and pediatric hematology/oncology. She has been studying bone marrow failure syndromes for more than three decades.
Stephanie Steinbart, RN, MPH
Ms. Steinbart served as CGB’s referral nurse for more than 20 years. She retired in January 2023.