This unit of study provides a comprehensive introduction to the research methods that can be used in the identification and characterisation of genetic variants underlying neuropsychiatric and neurodegenerative diseases. The first part of the unit will focus on the statistical methods to quantify the contribution of genetic factors to complex genetic disorders in the population. The principles of genetic association will be discussed, using examples of neurodegenerative disorders. The course will then discuss concepts of gene mapping for Mendelian diseases using linkage analysis and the identification of causative variants using filtering strategies of next generation sequencing data. Students will learn to use a suite of bioinformatics tools and resources. This is a capstone unit of study that will require students to develop over the semester a scholarly piece of work using advanced bioinformatics skills. Over the assessments in this unit, students will identify genetic variants associated with a neurodegeneration-related trait, map and identify possible causative genes for a Mendelian neurodegenerative disease, examine the suitability of gene DNA variants as disease candidates using bioinformatics, and propose future laboratory research that would confirm the role of this gene in disease.
2hr seminar week 2, one day workshop week 5, 9 and 11
Lab report (40%), journal article (60%)
Specific reference material listed on eLearning
This is a capstone unit of study.