Medical Genetics

(3 Credit Hours) · Undergraduate

The module introduces the genetics of human disease, from simple Mendelian traits to complex multigenic diseases and gene/drug interactions. Topics include the development of medical genetics from 1752 to the 'post-genome' era; the spectrum of human autosomal recessive diseases; RFLP analysis and the statistical evaluation of linkage data; localization and isolation of the Huntington disease gene; congenital diseases caused by chromosomal imbalance; diseases involving repeat expansions; developments and setbacks in the use of gene and molecular therapies for treatment of hereditary diseases; and pharmacogenomics (interaction of genetic background with drug response). The module also covers analysis of quantitative traits: complex human diseases such as type 2 diabetes; approaches to mapping genetic variants responsible for complex traits; heritability; genome wide association mapping.