Biochemical Genetics

Catalog description

Metabolic disorders and biochemical disorders are an area of clinical genetics that is increasing in importance and complexity. This course provides an overview of the major groups of metabolic disorders, specific metabolic disorders, their metabolic pathways, the genes involved, and treatment. This course utilizes lectures and case-based examples and learning assignments. There will be an emphasis on how a diagnostic process unfolds, understanding the entire picture, what characteristics lead the clinician to certain tests and studies, what does the results mean, where do you go next. This course will focus on modes of inheritance, recurrence risks, pathogenesis, screening options, diagnostic testing, natural history, treatment options, psychosocial and genetic counseling implications.