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. Understanding genetic variants in the context of genomic medicine is essential for patient management and predicting disease outcomes. Thisunit will provide students with and overview of bench to bedside genomic medicine. Students will be taught skills to identify causative and susceptibility gene variants from next generation sequencing data and shown bioinformatics tools to analyse variants. The variant information will then be considered in a doagnostic setting through the clinical application of genetic counselling for patient management and well-being. 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 cognitive traits and neurodegenerative disorders. The course will then discuss concepts of pedigree analysis for Mendelian neurodegenerative diseases with practical excercises inidentifying candidate variants using filtering strategies of next generation sequencing data. The final part of the course will introduce a suite of bioinformatics tools and resources to generate a research report. This report will form an introduction to the genetic counselling practices required for clinical interpretation and use of information for patient-centred genomic healthcare delivery. 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 and interpretting the information for a clinical setting. Over the assessments in this unit, students will identify genetic variants associated with a complex neurodegeneration disorder, map and identify possible causative genes for a Mendelian neurodegenerative disease, examine the suitability of DNA variants identified as disease candidates using bioinformatics tools, and interpret the clinical implications for the patient and their family.
one day workshop week 1, 5, 9 and 11
Lab report (60%), journal article (40%)
Specific reference material listed on eLearning
This is a capstone unit of study.