Research to improve the diagnosis and treatment of the movement disorder, dystonia, has attracted a $100,000 grant from the WA Department of Health for a project led by Consultant Neurologist Dr Wayne Yau (Perron Institute and Fiona Stanley Hospital).

Dystonia is a disabling neurological condition affecting more than 80,000 Australians. It causes muscle spasms that lead to abnormal posture, involuntary movements, pain and significant physical disability.

“Onset can be at any age and as well as the personal suffering and challenges for those affected and their families, the health burden in terms of support costs and loss of productivity is significant,” Dr Yau said.

“There is a fundamental gap in knowledge of the molecular causes and effects of this disease, so our research aims to find missing pieces of the genetic puzzle using whole genome sequencing technologies.”

Dr Yau’s collaborative research on the neurogenetics of movement disorders such as dystonia is also being supported by a $50,000 Research Establishment Fellowship awarded by the Royal Australasian College of Physicians.

“Less than a quarter of families with dystonia receive a genetic diagnosis because of our inability to capture and interpret parts of the human genome,” Dr Yau said.

“With novel DNA sequencing technologies, data analysis methods and cellular models, our research in collaboration with the PathWest Neurogenetic Unit aims to solve the genetic diagnosis of 47 families.

“Gene discovery will also help guide precision treatment of dystonia and evaluate the impact of deep brain stimulation based on dystonia-specific genes.

“The knowledge can be rapidly implemented through improved diagnostic pipelines in accredited molecular genetics diagnostic laboratories to benefit people with dystonia and their families Australia-wide and beyond.”

Research collaborators include Associate Professor Gina Ravenscroft and Emeritus Professor Nigel Laing AO (Rare Disease Genetics and Functional Genomics Group, Harry Perkins Institute), and Dr Mark Davis (Molecular Geneticist, PathWest).