Women Scientists in Action
Yardena Samuels, Ph.D.
Yardena Samuels, Ph.D., is a tenure track investigator at the National Human Genome Research Institute (NHGRI) in the NIH Intramural Research Program. Her research focuses on the genetics of melanoma, a type of skin cancer.
Dr. Samuels received her B.Sc. from Cambridge University, UK where she focused her studies on cancer research. Dr. Samuels went on to earn an M.Sc. in immunology and cancer research at Hebrew University of Jerusalem, Hadassah Medical School in Israel and a Ph.D. in molecular cancer biology at the Ludwig Institute for Cancer Research, Imperial College, London. During her Ph.D., Dr. Samuels was involved in identifying a key family of proteins that can both promote and inhibit tumor growth by associating with the protein p53. The discovery of the evolutionarily conserved ASPP family of proteins, which consists of three members, ASPP1, ASPP2 and inhibitory ASPP (iASPP), revealed a novel mechanism by which the apoptotic function of the p53 family is regulated.
Impressed with the ingenuity of their genetic model of colorectal tumorigenesis, or tumor growth, she joined the lab of Dr. Bert Vogelstein and learned high-throughput DNA sequencing. Using this technique, she discovered that the gene encoding PI3Kalpha is mutated in 32% of colorectal cancer patients as well as in a large fraction of other human cancers, making this one of the most highly mutated oncogenes in human malignancies. Functional characterization of these mutations showed that PI3Kalpha is an exciting target for therapeutic intervention and opens the door to individualized diagnostic and treatment approaches in human cancer. This early and important success strengthened her conviction that her “scientific path was to pursue cancer genetics as a means of understanding tumorigenesis and thereby combating it.”
As a tenure track researcher in the Molecular Cancer Genetics Section of the Cancer Genetics Branch, NHGRI, Dr. Samuels continues to use high-throughput DNA sequencing and whole-genome genotyping to identify novel mutations in gene families that regulate signal transduction in late-stage cutaneous melanoma. Melanoma disease progression is thought to be associated with the accumulation of genetic mutations over time. While several genes have already been implicated in the development of melanoma, Dr. Samuels’ interest is to further elucidate these genetic alterations and to investigate their functional effects. To this end she has recently reported the results of the first systematic genetic analysis of a group of enzymes, called matrix metalloproteinases (MMPs), implicated in many types of cancer. Importantly, her group found that one-quarter of human melanoma tumors had mutations in genes that code for MMP enzymes. Among the discoveries of particular importance for melanoma treatment is the identification of a new tumor suppressor gene, called MMP-8.
Dr. Samuels’ team is currently using similar high throughput approaches to examine the genes encoding tyrosine protein kinases, which play important roles in cell signaling; these genes are associated with a variety of human cancers and may be targets for therapeutic intervention. Identifying melanoma-associated genetic alterations in specific genes may eventually allow clinicians to understand the clinical progression of the disease, allowing them to better predict clinical course and therapeutic response. Dr. Samuels hopes to identify new targets for drug development and to deliver on the promises made during human genome sequencing efforts by connecting the base pairs of the Human Genome Project to the bedside of those afflicted with genetic disease.
Dr. Samuels credits her success in balancing her active roles in science and in her family to good fortune and enormous support from her husband, colleagues, and mentors. She is also committed to helping train the next generation of scientists. This summer, she hosted an undergraduate intern as part of the NIH Intramural Program on Research on Women’s Health (IPRWH) Summer Internship Program. The IPRWH was created to help promote women's health research, including sex and gender comparisons, within the NIH Intramural Research Program. Its mission includes enhancing communication among, and recruitment of, researchers on women's health among the twenty-seven Institutes and Centers of the NIH and is supported by the Office of the Director, the Office of Intramural Research and the Office of Research on Women’s Health.
To keep informed about the Working Group and NIH-wide efforts, please sign up for our LISTSERV.