Biochemistry of Genetic Disease

This is a course from a previous year. View the current courses

This course examines the chemistry and metabolism of proteins, carbohydrates, lipids, and nucleic acids. Biochemical abnormalities seen in certain genetic diseases are discussed and correlated with the disease phenotype. Emphasis is placed on DNA, RNA, and protein synthesis, using selected genetic diseases as models. The risks, benefits, and limitations of state newborn screening programs and heterozygote carrier testing are detailed.