BMED11-207: Medical and Molecular Genetics

This subject introduces the basic concepts behind DNA structure, replication and gene expression, with an emphasis on human disease. Mechanisms of mutation and DNA repair will be examined and their consequences discussed. Case studies for specific genetic diseases will be employed to demonstrate single gene defects, complex multi-factorial diseases and chromosomal disorders. Clinical commentary on important disorders, including cystic fibrosis, achondroplasia, Fragile X, trisomy 21, etc. will be provided throughout the lecture series. More specialised topics including inborn errors of metabolism, mitochondrial disorders and the genetic basis of cancer and ageing will also be presented. Finally recent molecular advances in gene therapy and the Human Genome Project will be examined in relation to ethical, legal and social issues relevant to medical genetics. Students will also acquire standard laboratory techniques used in DNA diagnostic tests.