Miriam Kuppermann, PhD
Professor of Obstetrics, Gynecology & Reproductive Sciences
Dr. Kuppermann has an active research program focusing on informed decision making in the context of prenatal and adult genetic testing. Dr. Kuppermann has led numerous NIH, AHRQ, foundation and industry-funded studies of these issues in socio-demographically diverse populations, which have included conducting extensive formative research on patient preferences and experiences, developing decision tools with values clarification components, and conducting randomized controlled trials of the effectiveness of these tools among patients facing genetic testing decisions.
Yun-Fai Chris Lau, PhD
Professor of Medicine
Research Career Scientist, VA Medical Center, San Francisco
Dr. Lau is interested in understanding the functions of the Y chromosome genes and their homologues in human development, physiology and disease. Recent efforts are focused on the gene regulatory hierarchy in mammalian sex determination and differentiation, the contrasting roles of a Y-located oncogene and its X-homologue tumor suppressor in human oncogenesis, and the contributions of the Y chromosome genes in sexual dimorphisms in human diseases, such as autism, Hirschsprung disease, and hepatocellular carcinoma with high male preference in the respective patient populations. Various advanced molecular genetic, genomic, proteomic, and transgenic mouse modeling strategies are utilized in these studies.
Mary Norton, MD
Professor and Vice Chair for Clinical and Translational Genetics
David E. Thorburn, MD and Kate McKee Thorburn Endowed Chair in Perinatal Medicine and Genetics
Department of Obstetrics, Gynecology and Reproductive Sciences
Dr. Norton’s interests include genetic testing and its application to prenatal screening and diagnosis. She focuses on the unique aspects of translating new technologies into improved care for pregnant women and their fetuses, and the complexities of the maternal fetal dyad. She leads a multinational study on the use of cell free DNA testing in average risk women for the detection of fetal aneuploidy. Current projects include mechanisms and disorders associated with nonimmune hydrops fetalis and potential for in utero therapy; and application of whole exome and genome sequencing in the prenatal context.