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Unit of study_

BMRI5017: Genetics of Brain and Mind Disorders

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. This unit 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 diagnostic setting through the clinical application of genetic counselling for patient management and well-being. The first part of the unit will focus on 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 exercises in identifying 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 current practice bioinformatics skills and interpreting 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.

Code BMRI5017
Academic unit Brain and Mind Science
Credit points 6

At the completion of this unit, you should be able to:

  • LO1. interpret measures for genetic association in brain and mind disorders
  • LO2. demonstrate a practical understanding of genome-wide association studies and their limitations
  • LO3. demonstrate a practical understanding of family disease histories represented in pedigrees and extended haplotype analysis
  • LO4. demonstrate a practical understanding of next generation sequencing variant filtering for identifying causative alleles in Mendelian disease
  • LO5. use bioinformatics tools to assess properties of candidate variants for determining population frequency and pathogenicity prediction
  • LO6. use bioinformatics resources to investigate a gene’s function, expression pattern, protein outcomes and evolutionary history
  • LO7. demonstrate interpretation of susceptibility versus causative variants and the role of genetic counselling in translating information to patients who have undergone genetic testing
  • LO8. demonstrate an understanding of the role of genetic counselling in genomic education and healthcare delivery
  • LO9. interpret the psychosocial and clinical implications of genomic results on patient and family.

Unit outlines

Unit outlines will be available 2 weeks before the first day of teaching for the relevant session.