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Friday Evening Lecture Series
 07/16/04
Preimplantation Genetic Diagnosis: The Technology, the Medicine and the Bioethics
Mark Hughes, Genesis Genetics Institute
Introduction by David Keefe, Women & Infants Hospital, Rhode Island
Lecture Abstract:
The completion of the Human Genome Project heralds a new era of Functional Genomics. Raw DNA information that comprises the blueprint of human life will be data-mined, taken apart, spliced together, and injected into cells, animals, and embryos in ways we can barely imagine. The promise is for new medicines, predictive diagnostic tests, and stem cell therapies. The potential for societal, legal, and ethical uses/abuses of this powerful information is especially strong in reproductive genetics involving human embryos and the developmentally totipotent cells derived from embryos. Most every American has a visceral and reflexive response regarding these promising yet troubling technologies. One such new technology is called “Preimplantation Genetic Diagnosis” (PGD) of the human embryo. PGD combines the technologies of in vitro fertilization (IVF), embryo culture and biopsy, and single-cell molecular genetics. It provides couples at high genetic risk the opportunity to begin their pregnancy on day-one, with the knowledge that their fetus will not have the inherited disorder that afflicts their family. No longer do they need to throw the genetic dice, take a chance, and consider amniocentesis. This talk will mesh the biomedical tools of IVF-PGD with the clinical genetic scenarios of desperate couples. The boundaries of testing for diseases versus traits will be explored with real-patient data.
Mark Hughes is a Professor and Director of Molecular Medicine and Genetics at Wayne State University and Director of the Genomics Center Hub for the State of Michigan's Life Sciences Corridor. Formerly at the Human Genome Institute at the National Institutes of Health, his work has centered on understanding gene expression in the early human embryo. He pioneered the field of PGD for couples at very high reproductive genetic risk and offers this technology in conjunction with IVF Centers in the U.S. and Canada . Last year he formed the Genesis Genetics Institute which performs human embryo testing for couples world-wide. Hughes earned dual bachelor of science degrees in Chemistry and Biology from St. Johns University in Minnesota, his Ph.D. in Biochemistry from the University of Arizona College of Medicine, and his M.D. from Baylor College of Medicine in Texas. He joined the faculty of Wayne State University in 1998. In 1993 Hughes', research was recognized by the prestigious Science magazine as being one of the "ten most significant advances" in all of science that year. Recently, a full one-hour Discovery television program was devoted to his research, and he has been featured on Good Morning America, the Today Show, 20/20 and this month was featured on 60 minutes II.
David Keefe, M.D. will introduce Dr. Hughes. Dr. Keefe is the Director of the Division of Reproductive Medicine and Infertility and the Director of In Vitro Fertilization at Women and Infants Hospital in Providence, Rhode Island. He is also the Medical Director for the Division of Reproductive Medicine and Infertility at Tufts-New England Medical Center in Boston. Dr. Keefe's academic appointments include Research Affiliate in Obstetrics and Gynecology at Yale University School of Medicine, Associate Professor of Obstetrics and Gynecology at Brown University School of Medicine, Director of the MBL's Laboratory for Reproductive Medicine, and Adjunct Associate Professor of Obstetrics and Gynecology at Tufts Medical School. Dr. Keefe received his A.B. from Harvard College in 1976 and his M.D. from Georgetown University School of Medicine in 1980. He has served as the Director of the Society of Reproductive Endocrinologists and President of the Boston Fertility Society, which in 1997 gave him both its Prize Essay Award and its Original Research Prize. Dr. Keefe's other honors include the General Program Prize Paper of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology Prize Paper. Woodward/White, Inc.'s Best Doctors in America Award, the Science Coalition's Outstanding Research Breakthrough for 1998, and Brown Medical School's 2002-2003 Dean's Teaching Excellence Award. Dr. Keefe was named one of the 2000 Outstanding People of the 20th Century by the International Biographical Centre and he is listed in the 16th edition of Who's Who in the World.
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