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Blanche Alter Retires after 21 Years of Service at the NCI

In June 2021, Blanche P. Alter, M.D., M.P.H., senior clinician in the Clinical Genetics Branch (CGB), retired after 21 years of service at the National Cancer Institute. 

Dr. Alter is an internationally renowned scholar of cancer-prone bone marrow failure syndromes. She began to focus on inherited bone marrow failure disorders early in her career, while training at Boston Children’s Hospital, and eventually leveraged this career-long interest to build and lead the Inherited Bone Marrow Failure Syndromes (IBMFS) Study. The IBMFS Study is an interdisciplinary, etiologically-oriented, and epidemiologically-based clinical research program to conduct systematic investigations of cancer susceptibility in patients and families with IBMFS, including Fanconi Anemia (FA), Dyskeratosis Congenita (DC), Diamond Blackfan Anemia (DBA), Shwachman Diamond Syndrome (SDS), Severe Congenital Neutropenia (SCN), and others. 

“Dr. Alter’s vision in creating the world’s only longitudinal cohort study of cancer in the IBMFS was the foundation that led to the first quantification of cancer risks in these complex disorders, the discovery of more than a dozen causative genetic loci, and characterization of previously unrecognized phenotypes,” noted Sharon A. Savage, M.D., chief of CGB. “Scientists, including myself, have been able to develop independent research programs in FA, DC, DBA, and SDS upon the backbone of the IBMFS program created by Dr. Alter.”

Dr. Alter joined DCEG in 2000 as part of the newly formed CGB, under the leadership of former Chief, Mark Greene, M.D., M.P.H. At the time of her arrival, she was already widely known for her work in the field of hematology, especially FA, a disorder that predisposes affected individuals to cancers at early ages—including myelodysplastic syndrome, acute myeloid leukemia, and cancers of the oral cavity, oropharynx, esophagus, anogenital region, and liver. Her expertise in FA, as well as her deep connections to the FA family community, were critical to launching the IBMFS Study. “As Dr. Alter developed the research protocol, her vision and drive to stay connected to the families and extend research opportunities to other families internationally became apparent and imperative,” explained Jennifer Loud, R.N., C.R.N.P., D.N.P., former assistant chief of CGB. “The enrollment into her protocol soon took off, as did her list of collaborators.”

Since then, the IBMFS study has conducted a variety of investigations to determine the incidence and characteristics of cancer in each of the syndromes: case-control studies to identify potential risk factors and new cancer pathways; genotype/phenotype associations with cancer susceptibility; studies to better understand the possible relation between the heterozygous carrier state and cancer; and biologic studies of the tumors to determine the role of human papillomavirus (HPV) in these tumors and their resemblance to their counterparts in the general population. Under Dr. Alter's leadership, the IBMFS study has come to serve as a model for the study of the mechanisms of cancer development in human populations. “Dr. Alter has been a superb clinical investigator with a long-term vision who consistently asked critical questions and developed the opportunities to later revisit them with new approaches,” reflected Stephen J. Chanock, M.D., Director of DCEG.  

While the study expanded and made critical advances, Dr. Alter continued to care for her patients, providing invaluable clinical expertise to many families with these rare syndromes. She was instrumental in the formation of family support groups for patients with FA and DC. Dr. Alter’s family-centered approach to medicine is exemplified in her role of sharing research updates and serving as a reliable source of medical advice at Camp Sunshine, at Casco, Maine, where children with IBMFS and their families go annually to connect and learn about their disorders and research advances. “Dr. Alter has always been devoted to and beloved by the families affected by IBMFS, whether she saw them at clinic, camp, or meetings for the Fanconi Anemia Research Fund,” said June Peters, M.S., C.G.C., L.M.F.T., retired senior genetic counselor in CGB. 

In addition to her roles as researcher and clinician, Dr. Alter has also been an excellent mentor to over 20 fellows and interns, who have gone on to fulfilling careers in medicine, epidemiology, and other scientific disciplines. Her dedication to mentorship is further exemplified with her establishment of the Blanche P. Alter, M.D., M.P.H., Endowed Scholarship Fund at Johns Hopkins School of Medicine in 2017 to support merit-based financial aid to international medical students. “Dr. Alter has been a wonderful teacher, mentor, coach, and guide,” shared Neelam Giri, M.D., M.B.B.S., staff clinician in CGB. “Besides teaching us important skills in benign hematology, epidemiology, and statistics, she taught us how to think critically and write papers, as well as how to guide fellows in their work and career.”

During a career spanning five decades, Dr. Alter has published over 350 peer-reviewed articles, books, and book chapters. In addition, she has delivered invited lectures in the U.S. and abroad, and has received many awards for her ground-breaking research, including the National Institutes of Health Merit Award for her integral role in the IBMFS Study (2009), the Gluckman Lifetime Achievement Award (2014), NIAID Merit Award (2014), and was named a Luminary Speaker in 2019 by the American Society of Pediatric Hematology/Oncology. Her outstanding contributions to biomedical science were recognized with her election to the Association of American Physicians in 2019.

Dr. Alter cultivated her expertise in marrow failure syndromes as Chief of Pediatric Hematology/Oncology at the University of Texas Medical Branch (UTMB), and with professorships in Pediatrics at UTMB, Mount Sinai School of Medicine, and Harvard Medical School. After earning her undergraduate degree from Radcliffe College of Harvard University, she was one of five women in her cohort at Johns Hopkins School of Medicine, where she went on to earn an M.D., complete an internship and residency in pediatrics, and later obtain an M.P.H. She is board certified in Pediatrics and Pediatric Hematology/Oncology, and is a fellow of the American Academy of Pediatrics. She has served on dozens of boards and committees, including advisory boards for FA, DC, DBA, SDS, and SCN, and has served as an expert reviewer for nearly 50 journals. 

Dr. Alter’s unique and comprehensive IBMFS cohort study will continue to advance understanding of the underlying biology of these syndromes, their connection with cancer etiology, and their clinical manifestations. Following retirement, Dr. Alter will serve as a special volunteer to DCEG.
 

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