Students spend at least one day with the family of a child with a genetic disorder, interview a parent of a child with a genetic disorder, and write a final paper describing the experience. Topics include nondirectiveness and patient autonomy, and applications of genetic counseling in medical care, with special attention to the psychosocial aspects. Complements HGEN 730, and along with HGEN 621, helps students prepare for clinical rotations the following year. 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.