GENE30030 Genetic Basis of Disease

Academic Year 2022/2023

This module forms part of the core curriculum for the BSc degrees in Genetics. The course focuses on the definition of genetic disease, and the methods used for identification, diagnosis and possible treatment. The concept of linkage analysis is examined and illustrated using specific examples, including the identification of the causative molecular defects in cystic fibrosis. Concepts such as anticipation (the tendency of genetic disease to appear earlier and with increased effect in succeeding generations) are discussed in the context of inheritance of neurological disorders. The course covers the genetic inheritance of neurological diseases and cancer as well as targeted treatment strategies. The implications of recent developments in genomics are considered, and possible future therapeutic strategies such as nuclear transfer and gene therapy are discussed. Practical skills are a core component of the module. Students will identify polymorphisms in human DNA, learn how to analyse patterns of inheritance, use genomic methods to predict susceptbility to disease, apply computational methods to identify genes associated with human disease, and study genome alterations in cancer cells.