BIOS 5630 - Biology of Human Genetic Diseases

Explores how human genetic diseases are identified and studied. A primary goal is to understand the molecular basis of information flow in the cell: how a change in the DNA sequence of a gene leads to a specific disease phenotype. In addition to topics covered in lecture, each student chooses a genetic disease as a semester-long project, researching the primary scientific literature in which the disease gene was identified, the mutations in the gene characterized, and the cause of the disease phenotype explained. Some class time will be spent in the library during which students receive training in researching biological literature. Each student’s project is submitted in a series of papers and presented orally to the class.

Prerequisites & Corequisites: Prerequisites: BIOS 1500, BIOS 1510, BIOS 2300 and BIOS 2500; with grades of “C” or better in all prerequisites.

Credits: 3 hours

Notes: Open to Upperclass and Graduate students.