Medical Genetics

Medical Genetics (3 Credit Hours)

The Human Genome Project has determined that humans have about 20,000 genes, as opposed to the previously estimated 100,000 genes. The unraveling and analysis of our “genetic architecture” will provide us with greater insight into understanding and identifying inherited and acquired diseases since most diseases involve changes in gene structure and expression. The medical genetics cases series illustrate key genetic principles, applications, pathogenic mechanisms, and clinical manifestations (phenotype) of selected diseases. Additional pertinent information, screening and diagnostic tests will be discussed. The cases (some common; some rare) will encompass several topics: Single gene disorders, mutations in cellular proteins, inborn error of metabolism, mitochondrial DNA mutations, pharmacogenetic disorders, cytogenetic disorders, ecogentic disorders, and genomic imprinting.