Emma Turner
PhD student
Neurogenerative disease
Harry Perkins Institute of Medical Research
Australia
Biography
The Perkins Neurogenetic Diseases Laboratory is closely associated with the diagnostic Neurogenetic Unit in PathWest, the laboratory arm of the Western Australian Department of health. Since 2012, the Neurogenetic Diseases Laboratory has been a member of the NH&MRC Centre for Research Excellence in Neuromuscular Disorders, with the role of developing next generation sequencing based diagnostics for neuromuscular disorders. This goal has been achieved and implemented in the PathWest Neurogenetic Unit, resulting in a much higher percentage of neuromuscular disorder patients receiving an accurate molecular diagnosis than was possible previously.
Research Interest
Disease gene discovery Development of improved diagnostics Development of clinically applicable therapies Prevention of genetic disease
