• Biography
• Research Interests
• NCI Publications (text and abstracts from the DCEG publications database)
• Publications in PubMed

Biography

Dr. Savage joined the Clinical Genetics Branch, DCEG, NCI in 2006 as a tenure-track investigator. She was awarded scientific tenure and was promoted to senior investigator in 2012. Dr. Savage received her M.D. from the University of Vermont College of Medicine, completed residency training in Pediatrics at Children’s National Medical Center, in Washington DC, and a fellowship in Pediatric Hematology/Oncology at the NCI Pediatric Oncology Branch and Johns Hopkins University. She is board-certified in both Pediatrics and Pediatric Hematology-Oncology. Dr. Savage is the NCI Liaison to the American Academy of Pediatrics Committee on Environmental Health. Her current research is focused on the genetic and molecular epidemiology of telomere biology, pediatric cancer etiology, and inherited cancer predisposition syndromes.

Research Interests

Telomere Molecular Epidemiology

Telomeres, specialized structures consisting of long DNA nucleotide repeats and a protein complex, are designed to protect the ends of chromosomes and are critical to chromosome stability. Each time a cell divides, the telomeres lose a small amount of DNA and become shorter. Eventually, telomeres become critically short, causing cellular senescence or cellular crisis, which result in apoptosis, genomic instability or a reduction in cellular lifespan. If cells bypass natural processes and continue to divide despite the presence of genomic instability, cancer can develop. Dr. Savage investigates the connection between telomere biology and cancer through studies of the association between telomere length and cancer risk, the telomere biology disorder dyskeratosis congenita, and the genetic contribution to telomere biology.

Understanding Cancer Etiology - Osteosarcoma

Osteosarcoma is the most common primary malignant bone tumor and typically occurs during the adolescent growth spurt. Patients with localized osteosarcoma at diagnosis have a 60 to 80% long-term survival rate; metastatic disease carries a much poorer prognosis. In order to better understand the etiology of this disease, Dr. Savage conducts epidemiology and genetic studies of osteosarcoma.

Li-Fraumeni Syndrome

Li-Fraumeni syndrome (LFS) is a highly-penetrant autosomal dominant cancer predisposition syndrome associated with a wide range of cancer types which occur at younger-than-expected ages. It was first described in 1969 and germline mutations in TP53 were recognized as the primary cause in 1990. Dr. Savage and her colleagues have initiated a new clinical, genetic, and epidemiologic study of LFS in order to further characterize the clinical and molecular consequences of this disorder, and to develop a cancer screening program for TP53 mutation carriers (www.lfs.cancer.gov). They also assisted in the creation of an international LFS research consortium.