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GENECSLR 744

APPLICATIONS OF BIOCHEMICAL GENETICS FOR GENETIC COUNSELORS

2 credits.

Comprehensive overview of clinical biochemical genetics through a systematic review of classic and rare inborn errors of metabolism (IEM). Psychosocial issues are discussed as related to care of patients, and their families, with metabolic disorders.

Prerequisites & course information

Requisites: Declared in Master of Genetic Counselor Studies Course Designation: Grad 50% - Counts toward 50% graduate coursework requirement Repeatable for Credit: No Last Taught: Fall 2026 Learning Outcomes: 1. Develop a framework for understanding the natural history, disease mechanism, inheritance, testing sequence and therapies for specific biochemical genetic diseases. Audience: Graduate 2. Explain newborn screening, including the historical perspective, testing methodologies used and ethical considerations. Audience: Graduate 3. Describe the role of the genetic counselor as part of a multidisciplinary Biochemical Genetics Clinic Audience: Graduate Learning Outcomes: 1. Develop a framework for understanding the natural history, disease mechanism, inheritance, testing sequence and therapies for specific biochemical genetic diseases. Audience: Graduate 2. Explain newborn screening, including the historical perspective, testing methodologies used and ethical considerations. Audience: Graduate 3. Describe the role of the genetic counselor as part of a multidisciplinary Biochemical Genetics Clinic Audience: Graduate

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