Genetic and functional analysis of neurologic and neurodegenerative disorders. Dr. Farrer’s focus is Parkinson’s disease and related movement disorders. Within multicase pedigrees statistical genetics/linkage analysis has been used to identify mutations in novel genes underlying monogenic disease, whereas genome-wide association and next-generation sequencing has identified pathogenic risk factors. Population genetics is currently active in more than 20 countries spanning five continents, including studies in Australia, Canada, England, Faroes, France, Korea, Norway, Taiwan and Tunisia. Functional neuroscience of the mutated genes, including a-synuclein, dynactin p150Glued, leucine-rich repeat kinase 2, elongation initiation factor 4G1, vacuolar protein sorting 35 and receptor mediated endocytosis-8 (DNAJC13) includes the generation and characterization of transgenic, cre-conditional knock-in and knock-out mouse models.

Core techniques include molecular genetics (next-generation and Sanger sequencing, Sequenom and Taqman genotyping), bioinformatics and statistical genetics (genome alignment and annotation, pedigree and population genetics with linkage and association methods), molecular and cell biology (construct design and cloning, primary neuronal culture, live-cell confocal imaging, biochemistry), electrophysiology, pharmacology and behaviour (including microdialysis voltammetry and optogenetics in brain slice). Molecular insights in disease pathogenesis now provide the rational and tools for novel therapeutic advances.

Funding comes from the Canadian Federal Government (CERC, CIHR, CFI), the Province of British Columbia, Borealis & Life Labs, with Genome BC, the National Institutes of Health, the Michael J Fox Foundation, the Parkinson`s Disease Foundation and partnerships with the Pharmaceutical industry. Investment from the latter is primarily directed towards translational research. See the Centre of Applied Neurogenetics homesite (www.can.ubc.ca) for more details.