Dr. Sharon A. Savage is the Director of the Clinical Genetics Branch and Clinical Director of the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She developed a highly successful research program by effectively and efficiently moving within and across her areas of expertise in basic science, clinical medicine, and epidemiology.
Dr. Savage's internationally recognized research in dyskeratosis congenita (DC) and telomere biology is leading the way in understanding the consequences of aberrations in telomere biology and cancer etiology. Her work most recently discovered variants MDM4 as a new cause of telomere biology disorders (TBDs). This is in addition to her prior discoveries of four new DC/TBD genes (TINF2, ACD, RTEL1, and WRAP53) and a founder mutation in RTEL1. Dr. Savage’s expertise in the clinical aspects of DC has defined, in detail, its complex dermatologic, neurologic, pulmonary, and vascular complications manifestations. Her recent work has expanded to studies of other causes of bone marrow failure, including the first genome-wide association study (GWAS) of severe aplastic anemia, which identified novel loci in HLA significantly associated with risk. Dr. Savage applies her expertise in genomics to uncovering the causes of other inherited bone marrow failure syndromes, including Diamond Blackfan anemia and Fanconi anemia.
Dr. Savage’s leadership and multi-disciplinary collaborative approach led to the NCI intramural program’s first clinical and genetic study of Li-Fraumeni syndrome (LFS) since the mid-1980s. The study she initiated in 2008 has grown into an internationally recognized hub for families with LFS and for researchers seeking collaboration. She is co-founder and steering committee member of the international Li-Fraumeni Exploration (LiFE) consortium which collaborates to improve the lives of families with LFS. By 2020, the NCI LFS study had accrued more than 210 families and nearly 900 individuals. Thanks to her leadership, the NCI joined forces to conduct an international meta-analysis of 578 patients and found remarkable consistency of 5-7% new malignancy diagnosis at baseline whole body MRI scan.She co-led the first ever study of female reproductive factors and breast cancer in women with LFS and ongoing work in LFS includes a cancer screening study and numerous molecular epidemiology and clinical studies of this highly cancer-prone syndrome.
As the DCEG Clinical Director, Dr. Savage ensures the Division's compliance with human subjects research protection regulations, mentors physician-scientists and builds upon collaborations intra- and extramurally between clinicians, geneticists, epidemiologists and basic scientists.
Dr. Savage’s scientific leadership and recognition as such is illustrated, in part, by her service as a member of the Team Telomere medical advisory board (chair 2008-2020), steering committee member and co-founder of LiFE, co-chair of the ClinGen Variant Curation Expert Panel for TP53, member of the arts and sciences advisory board for Worcester Polytechnic Institute, and co-founder of the Clinical Care Consortium of Telomere-Associated Ailments (CCCTAA).
