The course helps students fine tune their sensitivity to psychosocial issues and prepares them for clinical rotations. Covers the normal human karyotype, chromosome identification methods, numerical and structural abnormalities and their clinical correlates, X chromosome gene action, chromosomes and cancer, human population cytogenetics, gene mapping, and karyotype evolution. Students give a seminar on a pertinent topic. This course uses qualitative and quantitative traits to discuss genetic and epidemiologic factors affecting normal and abnormal variation within and between populations. Students have the opportunity to discuss research options with all faculty members before selecting rotations.
Students study mechanisms of gene action as illustrated by inherited human biochemical defects.
Topics include fundamental aspects of the function and malfunction of enzymes, vitamins, and structural and regulatory proteins at the biochemical and molecular levels, clinical features of metabolic diseases, differential diagnosis, and laboratory follow-up. Topics include collection and interpretation of pedigree information, determination of modes of inheritance, calculation of recurrence risks, techniques of genetic counseling, and an introduction to genetic nosology. Students gain experience in genetic counseling clinics and on hospital ward consultative rounds, with training in abstracting patient medical histories, writing evaluation reports co-signed by faculty members, and interpreting laboratory results. This lecture series, which complements HGEN 728, covers clinical aspects of genetic disease. Topics include genetic disorders and birth defects, organ systems, both metabolic and dysmorphic syndromes, normal prenatal and pediatric development, medical terminology, components of medical charts and physical examinations, and organization and administration of medical centers.