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HUMAN GENETICS 501 (Medical Genetics) T.D.
Gelehrter, M.D. Fall Term, 2002 |
The growing awareness of the central role of genetic factors in the causation of human disease has made genetics one of the most rapidly developing fields in medicine. Much of this progress has been propelled by advances in the area of molecular genetics and genomics, advances that, in turn, have been applied directly to the diagnosis and management of disease. The objective of this course is to present the basic principles of medical genetics and their application to clinical medicine. There will be a strong emphasis on molecular genetics and its contribution to various aspects of human genetics with the intent of providing students the necessary background to understand ongoing developments in genetics and their application to clinical problems. A number of clinical examples will be used during this course to illustrate genetic principles. We will try to use certain diseases repeatedly, because they illustrate several aspects of medical genetics. Please keep in mind that this is not a course in clinical medicine, and you will not be expected to remember all the clinical details. The course will also include three patient presentations. As physicians and students, we owe a great debt to our patients, for they are ultimately our teachers. These patients are, without recompense, giving of their time and of themselves. Please dress and act accordingly. It is appropriate to ask them questions, but please be sensitive. The required text is the 2nd edition of Principles of Medical Genetics by Gelehrter, Collins, and Ginsburg; Lippincott, Williams and Wilkins, Baltimore, 1998. Note that the chapter titles bear an astonishing resemblance to many of the lecture titles. We hope that you will read the relevant chapters of the text prior to the classes on these topics. We plan to use the class time to try to clarify difficult points, update areas in which there have been new advances since publication of the book, and focus on the most interesting aspects of these topics. Objectives for our lectures will be available on the course web site under "Teaching Materials." For those desiring more readings in the area of molecular medicine and medical genetics, we recommend the following. Strachan and Reed, Human Molecular Genetics, 2nd ed., Wiley-Liss, 1999, presents an experimentally-based, detailed exposition of current technology applied to human genetics. Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd ed., Rimoin, Connor, and Pyeritz (eds.), Churchill Livingston, 1996, and The Metabolic and Molecular Bases of Inherited Disease, 8th ed., Scriver, Beaudet, Sly, and Valle (eds.), McGraw-Hill, 2001, are excellent, comprehensive reference books. The course web site also has links to other sources of genetics information. We are fortunate to have John Bernat and Ira Winer as teaching assistants for the course this year. They are MSTP students who have survived an earlier version of HG501. John and Ira are available to help answer your questions and to discuss study questions with you. They can be contacted at lectures or during office hours, or by e-mail jbernat@umich.edu or iwiner@umich.edu. Their "office hours" are listed below. Fri., 10/25/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 11/01/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 11/08/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 11/15/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 11/22/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 11/29/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 12/06/02, 12:00 PM – 1:00 PM, LRC 2903; Fri., 12/13/02, 12:00 PM – 1:00 PM, LRC 2903. As you are now well aware, there are weekly quizzes designed to provide you with feedback on your progress in mastering the principles and concepts presented in this course. The questions, prepared by the lecturers, will be based both on the text and on the classroom presentations. As in the past, our questions will try to emphasize problem solving and integration and application of material, rather than fact regurgitation. This year we plan to replace some of the quizzes with web-based exercises. A set of questions will be presented that can be answered by accessing and interpreting information available on the web. Details on the mechanics will be provided. An overall score of at least 75% is required for passing this course. Approximately 40% of this score will be based on the weekly quizzes and web exercises, and 60% on the final examination. Several years ago, Dennis Hartigan-O'Connor, assisted by Karen Hajra and Bev Yashar, established The Quiz Page on the course web site with practice quizzes and actual quizzes, all with answers and explanations! We think you will find these useful (despite some programming glitches). Finally, we would sincerely appreciate your feedback on the course and hope you will make the effort to fill out the on-line evaluations thoughtfully and critically. We especially welcome your specific written comments. Thomas Gelehrter, M.D., Course director tdgum@umich.edu Stephen Gruber, M.D., Ph.D., M.P.H. sgruber@umich.edu Elizabeth Petty, M.D. epetty@umich.edu |