Daphne W. Bell, Ph.D.
Cancer Genetics and Comparative Genomics Branch
Reproductive Cancer Genetics Section
B.S. Queen's University, Northern Ireland, 1988
Ph.D. Queen's University, Northern Ireland, 1992
50 SOUTH DR, MSC 8000
BETHESDA, MD 20892-8000
Dr. Bell and her team study uterine cancer, the most commonly diagnosed gynecological malignancy in the United States. It is predicted to be the seventh leading cause of cancer death among American women in 2014, according to the American Cancer Society. Most uterine cancers arise from the inner lining of the uterus, or endometrium, and thus are called endometrial cancers.
Most human cancers, including endometrial cancers, are caused by the lifetime acquisition of mutations, or alterations, in the DNA of cells within the body - the genome. The overarching goals of Dr. Bell's laboratory are to identify and characterize driver mutations that cause clinically aggressive cancers of the endometrium and, where appropriate, to determine their clinical relevance. Driver mutations are those that convert a normal cell into a cancer cell.
Although the majority of endometrial cancers are associated with high cure rates, certain endometrial cancers are clinically aggressive and are associated with much poorer outcomes. During the past 20 years, it has become clear that some driver mutations can be turned off by cancer drugs that target the mutated gene, resulting in death of the tumor cells while leaving the normal cells largely unharmed. Therefore, identifying mutations that are present in human tumors but absent from normal cells is the first step towards identifying genetic targets that can be exploited for precision or personalized medicine using targeted therapies.
Dr. Bell is a senior investigator at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. She received her B.Sc. (Honors) in Zoology and Genetics and her Ph.D. in Biology and Biochemistry from The Queen's University of Belfast in Northern Ireland. She conducted her postdoctoral training at Fox Chase Cancer Center, Philadelphia, before joining Harvard Medical School and Massachusetts General Hospital, where she was an instructor of medicine from 1997-2004 and an assistant professor of medicine from 2004-2006.
Dr. Bell's graduate and postdoctoral studies focused on the fine-mapping of genomic deletions in ovarian cancer and in malignant mesothelioma as a means to home in on regions of the genome containing putative tumor suppressor genes. While at Massachusetts General Hospital/Harvard Medical School, Dr. Bell and her colleagues made a number of seminal discoveries including the landmark discovery that mutations in the EGFR gene explain the dramatic clinical responses of non-small cell lung cancer patients to gefitinib, a small molecule inhibitor of EGFR.
Upon joining NHGRI in 2006, Dr. Bell launched a new research program to identify genomic alterations that cause clinically aggressive forms of endometrial cancer. Her laboratory has since identified novel, high-frequency somatic mutations in PI3-kinase in endometrial tumors, thus uncovering previously unrecognized cohorts of patients who might benefit clinically from therapies targeting the PI3-kinase pathway. Her group reported one of the first whole-exome sequencing studies of serous endometrial carcinomas, in which they discovered frequent mutations in genes that regulate chromatin-remodeling and ubiquitin-mediated protein degradation. Dr. Bell's ongoing research aims to identify additional genomic alterations that drive clinically aggressive endometrial tumors, and to understand their functional consequences.
Dr. Bell received a 2007 PECASE award, which is the highest honor bestowed by the U.S. government on outstanding scientists and engineers beginning their independent careers.
Last Updated: January 6, 2014