536-350 Genes to Phenotype:Control & Integration

This subject is only available to Bachelor of Biomedical Science students.

521-213 Integrated Biomedical Science I and 536-250 Integrated Biomedical Science II

The subject will provide a broad picture of the role of genes in the function and integrated control of cells, tissues and whole organisms, particularly mammals. The aim will be to develop an understanding of the role of genes in the context of whole animals by investigating the embryological, physiological and biochemical consequences of natural genetic variations and experimental genetic manipulations, using contemporary molecular biology techniques. The subject will address issues such as integration and coordinated control of systems and adaptation to change. The juxtaposition of the subject with 521-308 Genome Science complements the emphasis on the fundamental involvement of molecular systems in critical integrated processes. The theme Genotypes to Phenotypes will cover the major principles that underpin the genetic determination of the life processes. The topics to be covered will include genome to organism, fertility and infertility, gametes, fertilisation, differentiation, organogensis, sexual determination and differentiation, biological rhythms and ageing. The second theme Genetic Diversity - Causes and Consequences will build on the understanding of genes and healthy phenotypes to consider the ways in which genetic diversity is maintained in populations and from one generation to the next. It will consider the adaptations to environmental stress (insecticides, drug resistance, heavy metals) and internal alterations to genes (monogenic and polygenic traits). The final theme Genotypes to Phenotypes in Disease will explore examples of genes causing quantitative and qualitative variations than may be harmful to individuals. Some examples that will be discussed will include cardiovascular diseases, familial cardiomyopathy, muscular dystrophies and channelopathies (cystic fibrosis, long QT syndrome, epilepsy, and myotonias). The practicals and workshops will incorporate computer-based self-directed learning exercises and reflect the three themes of the subject. The practical component may include visits to relevant research and/or industrial laboratories and complementary library exercises with a view to developing a research proposal in a specific area relevant to material covered in lectures. The practical and workshop components of the subject will assist students in developing communication skills (written and oral), critical thinking and analytical skills and participate effectively as a team member.

2-hour end-of-semester written examination on the theory and practical components of the subject (70%); written reports on the practicals and computer-based self directed learning exercises (30%).