Research on genetic causes of dystonia in Australian families affected by this severely disabling neurological movement disorder has received support under the 2025-26 WA Government’s Future Health Research and Innovation Fund’s (FHRI) Near Miss Awards: Emerging Leaders Program.
A $100,000 grant has been awarded to Consultant Neurologist Dr Wai (Wayne) Yan Yau, (Perron Institute, Sir Charles Gairdner Hospital and The University of Western Australia Medical School).
Dystonia causes muscle spasms that can lead to abnormal posture, involuntary movements, pain and significant physical disability.
“More than 80 genes are associated with this disorder, but fewer than 25 per cent of individuals with primary dystonia receive a genetic diagnosis,” Dr Yau said.
“A genetic diagnosis provides patients and their families crucial information about their disease to inform prognosis, family planning and potential for pre-gestational diagnosis.
“Improved understanding of underlying dystonia mechanisms will enable clinical teams to deliver personalised therapies such as deep brain stimulation and will also assist in developing curative treatments.
“We will also investigate the effect of genetic diagnosis on deep brain stimulation surgery outcomes in dystonic cerebral palsy, and evaluate gene therapy for families with inherited forms of dystonia.”
Collaborators in this study are Professor Gina Ravenscroft (Harry Perkins Institute), Dr Mark Davis (PathWest), and Professor Phillipa Lamont (Royal Perth Hospital).
The FHRI WA Near Miss Awards: Emerging Leaders Program is designed to support researchers who have narrowly missed out on securing a highly competitive National Health and Medical Research Council (NHMRC) Investigator Grant.
The 2025-26 round received a record high number of applications by early and mid-career researchers seeking the opportunity to improve and resubmit their applications for support.
The Near Miss Awards are designed to increase the chances of success with a future application to the NHMRC.