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.
|Faculty||Faculty of Health Sciences & Medicine|
1. Describe the mechanisms relating to storage, replication and expression of genetic material.
2. Explain the relationship between chromosomal, single- and multifactorial-gene mutations and human disease.
3. Provide a comprehensive overview of mechanisms of DNA mutation and repair.
4. Describe methods of identifying human disease genes and treatment of genetic disorders.
5. Develop laboratory and analytical skills in the area of molecular genetics.
6. Discuss and debate the ethical, legal and social issues relevant to medical genetics.
7. Work competently in a group and share information in tutorials.
8. Develop a high level of communication skills, both written and orally.
Assumed knowledge is the minimum level of knowledge of a subject area that students are assumed to have acquired through previous study. It is the responsibility of students to ensure they meet the assumed knowledge expectations of the subject. Students who do not possess this prior knowledge are strongly recommended against enrolling and do so at their own risk. No concessions will be made for students’ lack of prior knowledge.
Assumed Prior Learning (or equivalent):
|Withdraw – Financial?||13/02/2021|
|Withdraw – Academic?||06/03/2021|