胚胎著床前基因诊断之现况与未来

1、胚胎著床前基因診斷之現況與未來日期：2010年5月21日 時間：13:00-14:30地點: 高雄長庚紀念醫院 兒童醫院大樓 10 樓 婦產部會議室TimeTopicSpeakerModerator13:00-13:05Opening許德耀理事長、龔福財部長13:05-13:50胚胎著床前基因診斷之現況與未來Dr. Mark Hughs龔福財部長13: 50-14:05體外胚胎培養和冷凍對懷孕胎兒性別的影響黃富仁主任14:05-14:25Q&ADr. Mark Hughs、黃富仁主任14:25-14:30Closing許德耀理事長主辦單位: 高雄長庚紀念醫院婦產部、中華民國周產期學會協

2、辦單位: 訊聯生物科技股份有限公司、創源生物科技股份有限公司主講人簡歷Dr. Mark Hughesü 人類基因組計畫11位創始成員之一。ü 1990年首創全球胚胎著床前基因診斷PGD技術ü 1993年，Dr. Hughes專注基因診斷的研究受到科學(Science)雜誌推崇，列為年度科學十項偉大發明之一ü GGI創辦人、創源生物科技(GGA)董事Professor Mark Hughes, MD, PhDDirector, Genesis Genetics InstituteDirector, Applied Genomics Technology C

3、enter Professor Mark Hughes graduated in Biology and Chemistry from St. Johns University, and then received a Masters in Biophysics at Stanford University, followed by a Ph.D. in Molecular Biochemistry at the University of Arizona Medical Center. He continued his training at the Baylor College of Me

4、dicine in Houston as a postdoctoral fellow with Bert OMalley, where his pivotal work was published in Science and Nature and involved the cloning of the vitamin D and progesterone receptors and characterization of the first mutations found in human gene transcription factors. Following this training

5、 Hughes completed his M.D. at Baylor, followed by house staff training in Internal Medicine and clinical subspecialty training at Duke University. He then returned as junior faculty to Baylors newly formed Genetics Institute led by Thomas Caskey. Among his accomplishments was the realization that si

6、ngle cells could be molecularly data mined for diagnostic advantage: This led to a multi-year collaboration with IVF clinicians and embryologists at the Hammersmith Hospital in London; the field of Preimplantation Genetic Diagnosis was born. In 1993 Hughes' research was recognized by Science mag

7、azine as being one of the "ten most significant advances" in all of science that year; spanning all the physical, biological and mathematical sciences for that year.It was then that Professor Hughes was recruited to be one of the first 11 members of the Human Genome Institute at NIH. The G

8、enome Project was getting underway and Hughes was recruited to lead the section on Translational Genomic Diagnostics. He also chaired Human Genetics at Georgetown University. Doctor Hughes then moved to Michigan to take a position as Professor and Director of Molecular Medicine and Genetics, Profess

9、or of OB-Gyn, and Professor of Pathology. He was named as the Director of the state of Michigans Life Sciences Genomics Hub, focused on cutting-edge molecular medicine. Hughes work has centered on understanding gene expression in the early human embryo. His work on embryonic stem cells was acknowled

10、ged in 2001 when, along with Ian Wilmut (of Dolly the sheep fame) Hughes was awarded the “Pioneer in Stem Cell Biology” award. Professor Hughes, along with Professor Lord Robert Winston and Dr. Alan Handyside developed and performed the worlds first cases of has PGD. As we know, this field is now pr

11、acticed world wide todays speaker continues to push the frontiers of this technology and guide it in all its ethical ramifications, while he has expanded this work to systems-wide molecular understanding of early embryo development. His goal is to better understand, and hopefully prevent, many inher

12、ited birth defects of children. You may have seen him on the two hour BBC special last month. For those of you who recognize programs on American television, he has appeared on “Good Morning America”, the “Today show”, “CBS Evening News”, and the subject of television newsmagazine segments for “60 M

13、inutes” and “20/20”, and full hour programs on the Discovery Channel. His most recent medical advances have been in using Preimplantation Genetic Diagnosis to assist couples avoid serious disease in their children and, at the same time, obtain a stem cell cure for a sick child already in the family.

14、 He performs this “miracle” every day now for hundreds of families Four years ago, because of federal funding limitations on embryonic stem cell science in the United States, he moved the PGD aspects of his work into the Genesis Genetics Institute where the diagnostic aspects of PGD are provided to o