Biochemical Genetics

Catalog description

This course presents a broad overview of concepts of inborn errors of metabolism as well as detailed reviews of specific conditions so that students will learn to distinguish the basic descriptors of a wide variety of metabolic conditions, including cardinal features, biochemical signatures, genetic etiologies, inheritance patterns, and available treatments. Students will also understand the basis for, and implications of, newborn screening for both metabolic and other disorders. Students will learn the methods available for diagnosis, genetic and tissue-based testing, and the various forms of treatment for the disorder, from nutrition therapy and transplants to clinical trials. Approaches to appropriately counsel families with a wide range of metabolic conditions and to identify at-risk family members are included in this course. Course directors will attend each class, and guest lecturers with relevant clinical expertise will be invited to share their clinical knowledge.