Shaare Zedek Medical Center Jerusalem, Israel
Professor of Internal Medicine and Medical Genetics Hebrew University Director, Medical Genetics Institute
Increasing genetic screening in high-risk populations and advancing the understanding of inherited risk factors in diverse populations.
Dr. Levy-Lahad is working on two related projects, the Israel Breast Cancer Study (IBCS) and the Middle East Breast Cancer Study (MEBCS) with BCRF colleagues Drs. Moien Kanaan and Mary-Claire King. Genomic testing has an important impact on breast cancer prevention and early detection by accurately identifying women who are at particularly high risk of developing breast cancer. IBCS aims to further our understanding of the genetic bases of inherited breast cancer in the general population, and to improve the delivery of genetic testing. Her work in MEBCS involves looking for new breast cancer genes in the Arab population and providing genetics services to the Palestinian population. Collectively, these studies could identify more women and families who are at high risk of breast cancer, allowing them to take advantage of preventive and early detection strategies.
The research team is continuing to study families with multiple cases of breast cancer where the genetic cause is still unknown, using advanced DNA sequencing to search for new genes that elevate risk. They are testing how these genetic changes affect cells in the laboratory and then check their connection to breast cancer in large population databases. Additionally, they are evaluating BRCA population screening programs and found that people who knew they carried a BRCA mutation before developing cancer often had earlier diagnoses and better outcomes, even if they did not choose preventive surgery. Their findings also show that population screening helps identify at-risk individuals with less family history, leads to similar rates of preventive surgery, and provides meaningful opportunities for cancer prevention and earlier care.
In the next year, the research team will continue enrolling high-risk families with multiple breast cancers to search for rare genetic changes using the latest sequencing technologies. The team will also refine estimates of real-world cancer risks for BRCA mutation carriers by expanding their large national dataset and comparing it to data from the Israel Cancer Registry. Finally, they will study how population-wide BRCA screening works in practice, including what factors influence participation and how testing affects prevention and care, using health records from a large women’s health center (45,000 visits annually).
Ephrat Levy-Lahad, MD is Professor of Internal Medicine and Medical Genetics at Hebrew University and Director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem. She is one of the world’s foremost authorities on inherited breast cancer among Jewish women. Dr. Levy-Lahad received her medical degree from the Hebrew University-Hadassah Medical School in Jerusalem, Israel. She completed a residency in Internal Medicine at Shaare Zedek Medical Center also in Jerusalem, and a three-year fellowship in Medical Genetics at the University of Washington in Seattle. Since 1996, she has been Director of the Medical Genetics Institute and senior physician in the Department of Medicine at Shaare Zedek Medical Center.
Professor Levy-Lahad’s clinical laboratory includes cancer genetics diagnostics and a large pre-implantation diagnosis service. Her research focuses on genetics of breast cancer, in particular the BRCA1 and BRCA2 genes, and on genetic and environmental factors that affect the risk associated with these mutations. She studies the application of genetic testing to population screening and large-scale prevention efforts. Her laboratory is also involved in elucidating the genetic basis of rare diseases, including recent discoveries of novel genes for a rare congenital neurological disease in Ashkenazi Jews and for defects in ovarian development.
Professor Levy-Lahad is active in bioethical aspects of genetic research and is currently co-Chair of the Israel National Bioethics Council. She is a member of Israel’s National Council for Women’s Health and the National Council for Gynecology, Perinatal Medicine, and Genetics. Internationally, she was a member of UNESCO’s International Bioethics Committee (IBC, 2006-2009).
2001
The Roslyn and Leslie Goldstein Award
University of Washington Seattle, Washington
Bethlehem University Palestinian Authority
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