Molecular and Medical Genetics
|Faculty/School:||Faculty of Health Sciences & Medicine, School of Health Sciences|
|Credit Value:||10 credit points|
|Subject Enquiries:||Health Sciences & Medicine|
Telephone: +61 7 5595 4400
|Study Abroad availability:||Available to Study Abroad students|
|Subject Outline:||Currently unavailable|
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.
BMED71-203 Biology of Cells
At the end of the subject, the student should be able to be able to describe the mechanisms relating to storage, replication and expression of genetic material; provide a comprehensive overview of mechanisms of DNA mutation and repair; understand the relationship between chromosomal, single- and multifactorial-gene mutations and human disease; describe methods of identifying human disease genes and treatment of genetic disorders; explain to ethical, legal and social issues relevant to medical genetics; develop laboratory and analytical skills in the area of molecular genetics; work competently in a group and share information in tutorials and develop a high level of communication skills, both written and orally.