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Blanche P. Alter

Senior Clinician | MD, MPH | Bethesda, MD

Dr. Alter developed an interdisciplinary clinical research program, conducting systematic investigations of cancer in the inherited bone marrow failure syndromes (http://marrowfailure.cancer.gov/). The prototype disorder for this program is Fanconi anemia, in which there is a large excess of unusual cancers that occur at atypically early ages, including myelodysplastic syndrome, acute myeloid leukemia, and cancers of the oral cavity and oropharynx, esophagus, cervix and vulva, and liver.

This project involves active, protocol-driven clinical research. Investigations include surveys to determine the incidence and characteristics of cancer in each of the syndromes; case-control studies to identify additional risk factors and perhaps new cancer pathways; genotype/phenotype correlations with reference to cancer susceptibility; heterozygote surveys with regard to the possible relation between the carrier state and cancer; and biologic studies of the tumors to determine their resemblance to their counterparts in the general population. The patients who have these syndromes comprise a group at high risk of cancer which may be suitable for studies of cancer screening and prevention modalities.

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2025 Research Updates

Research is the answer to one day making FA a treatable, manageable disease. Here, you'll discover the most recent strides in FA research and activities funded by FCF. Every quarter, we'll bring you updates on newly funded grants, ongoing projects, and significant milestones.

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Phil and Penny Knight’s $10 Million, Decade-Long Gift Transforms Rare Disease and Cancer Research

Research supported by the Knights has shaped best practices in prevention, early-detection, and treatment strategies for cancer, benefiting people with FA and providing far-reaching benefits for the broader population.

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When Childhood Meets FA: Emily’s Story of Courage

Emily is much more than her diagnosis. She’s an athlete and an artist who loves playing soccer and basketball. She creates paper dragons for her friends, enjoys drawing, and is a proud Swiftie.

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