Genetics of Human Disease

Catalog description

This course uses human disease as a framework for understanding how genetic information yields organism-level phenotypes. The course will cover both classic and modern problem-solving approaches and experimental techniques used to understand how variation in the genome gives rise to human disorders. While specific human diseases will be discussed, the course will more often be used to illustrate important topics in human genetics and genomics, with a focus on the molecular basis of genetic interactions. The discussion will range from the influence of single mutant alleles on human disorders to population-level genetic and environmental risk. The potential of modern genetic techniques, such as whole genome sequencing, DNA ancestry registries, and genome editing, to provide diagnostic and therapeutic modalities to treat human diseases will be discussed. Additionally, the course will cover pitfalls presented by our understanding and use of human genetic information, including ethical, legal, and scientific challenges. Prerequisite(s): A BIO 205 or A BIO 212Y.