This Channel is designed to provide students with a basic understanding of the concepts of human genetics and genomics, in preparation for later application in the context of human development and congenital and acquired disease.
The goals of the channel are for students to:
Understand gene structure and human genome organization and function. Appreciate the complexities of gene regulation and epigenetics in normal and disease states. Understand the basic principles of cytogenetics and how chromosomal abnormalities result in disease. Recognize familial patterns of inheritance and the role of pedigrees for both classical Mendelian and common disease. Understand the basis of mutation and genetic variation, and their impact on human diversity and health. Understand the impact of prenatal and newborn screening on the diagnosis and management of genetic disease. Understand the genetic basis of normal development and of cancer.
