Northcott Neuroscience Laboratory
Lab head: Dr Marina Kenenrson
Location: ANZAC Research Institue
Gene Discovery Using Next Generation Genome Technologies: Family Studies to Identify Genes That Cause Premature Motor and Sensory Neuron Death.
Primary supervisor: Marina Kennerson
In recent years great significant progress has been made in finding the molecular causes of the premature death of neurons (neurodegeneration). This has largely been due to finding gene mutations causing the otherwise rare hereditary forms of neurodegenerative disease. The mechanisms of neurodegeneration can be divided into those that result in death of cell bodies (neuronopathies) and those that result in the ‘dying back’ of the distal neuron (axonal degenerations).
The Northcott Neuroscience Laboratory at the ANZAC Research Institute has an international reputation for mapping genes for Charcot-Marie-Tooth (CMT) disease, the most common group of disorders of the peripheral nervous system. Clinical characteristics of CMT include progressive distal limb weakness, muscle atrophy, loss of deep tendon reflexes, and sensory abnormalities. By discovering genes causing CMT we hope to identify proteins underlying the ‘dying back’ (axonal degeneration) of peripheral nerves which is a common feature of many neurodegenerative disorders including Parkinson’s disease, Alzheimer’s disease and motor neuron disease.
Gene identification for CMT disease has entered an exciting era in which availability of next generation sequencing (NGS) and high throughput genome technologies is expediting the gene discovery process. This project will contribute to ongoing work to identify gene mutations in families with CMT disease. Students will be trained in molecular genetic skills and gain practical experience in methods that represent the latest advancements in human disease gene mapping. These methods include genetic linkage analysis, microsatellite genotyping, high resolution melt (HRM) mutation analysis and the use of bioinformatics including NGS data analysis to identify potential pathogenic DNA variants. These skills will be invaluable for undertaking future postgraduate studies and pursuing a career in human neurogenetics. Previous Summer Scholarship students in our laboratory have been included as co-authors on peer reviewed publications and abstracts presented at national and international conferences.
Keywords: Bioinformatics, Neuropathy, molecular genetics
Contact: Email Marina Kennerson