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HGEN 731 Advanced Medical Genetics This course seeks to provide the student a foundation in medical genetics, focusing on common genetic diseases and birth defects, their management, and the testing methodologies used in diagnosis of disease. Course Objectives: The course will develop the student’s understanding of: 1. Principle and practice of medical genetics including clinical features, dysmorphology, natural history, diagnosis, etiology and management of common genetic diseases and birth defects. 2. Indications, limitations and methodologies of cytogenetic, biochemical and molecular genetic tests. 3. Case preparation and case management for various conditions and the critical use of information resources such as medical literature, on-line databases, etc. Learning Experience: Invited speakers from the genetics and medical communities will lecture on various topics related to genetic disease/birth defects. In addition to assigned readings from the recommended and supplemental texts, each lecturer may provide a list of references to be read in preparation for the class. Exam questions will be provided by the lecturer and will test the students on information covered in the lecture as well as readings. There are three assignments aimed at building the student’s case preparation and case management skills. Grading: The final grade will be based on the two exams and one course assignment as follows: 3 Exams 20% each Pediatric case assessment 15% Case Preparation Assignement 15% Student teaching assignement 10% Attendance is required for all classes. Two or more unexcused absences will result in a 1/2 grade deduction from final grade. A= 91 or above B+= 87-90 B= 81-86 C+= 77-80 C= 71-76 Recommended Texts Seashore and Wappner- Genetics in Primary Care and Clinical Medicine, 1996 Wilson and Cooley- Preventive Management Of Children with Congenital Anomalies and Syndromes, 2000. Supplemental Texts (Reserved in Library):