Human Genetic Variation and Disease

Catalog description

Human Genetic Variation and Disease will be an in-depth study of the effect DNA variation can have on human health. The types of DNA variation which will be studied include: single nucleotide variants (SNVs), structural variants (SVs) including copy number variants (CNVs), triplet repeat expansions and methylation abnormalities. This course will discuss the impacts of these variants on human health as it relates to genetic conditions from the prenatal setting to adulthood. Topics covered will include clinical presentation, etiology, diagnosis and treatment (if available) of genetic conditions, as well as the technologies used to detect DNA disease-causing variants. Ethical considerations of genetic testing will also be discussed.