The projects, announced by Federal Minister for Health Greg Hunt, are funded through the Medical Research Future Fund.
Lead investigator Professor Nigel Laing AO, from UWA and the Harry Perkins Institute of Medical Research and his team, will receive $3 million to investigate the genetic causes of neurological disorders including ataxias, where patients lack muscle control or coordination of voluntary movements, such as speaking, eye movement, swallowing or walking.
Professor Laing said the funding would help meet the demand for much-needed research into neurodegenerative disorders in an ageing population.
“There is considerable health burden to the community for these neurological diseases in terms of productive years lost,” he said. “This research will help to close the gap in the diagnosis of these neurological disorders.”
Co-investigator Dr Gina Ravenscroft, from UWA and the Harry Perkins Institute, and a Business News 40under40 Award recipient, said groups of patients with adult and later-onset neurogenetic diseases, had been relatively neglected during the recent genomic revolution and had a considerable unmet need.
“Approximately only 30 per cent of patients with adult-onset neurological disease receive a genetic diagnosis,” Dr Ravenscroft said.
“For the many patients with neurological disorders who do not have a genetic diagnosis, not knowing the variant causing their disease results in ongoing uncertainty for patients, their families, family planning and health care teams that leaves them in ‘diagnostic darkness.’ In contrast, obtaining a genetic diagnosis is the crucial turning point for each genetic disease patient.
“The patient, family and their clinical care team then know the precise disease they have, prognosis is clarified and precision clinical care can be implemented.”
Associate Professor Leon Adams from the UWA Medical School was awarded $3.2 million to carry out a nationwide trial to identify cirrhosis and liver cancer in patients sooner.
The study will recruit 2800 patients with risk factors for cirrhosis and liver cancer from rural and urban general practices around Australia and will assess the effect and cost of a strategy to diagnose cirrhosis early and survey patients for liver cancer.
Associate Professor Adams said most patients with a liver cancer or hepatocellular carcinoma had undiagnosed underlying cirrhosis and had missed the opportunity for surveillance that could detect this earlier and improve survival.
“We have established an accurate cirrhosis detection pathway and aim to examine its effect and cost on early diagnosis and surveillance of liver cancer compared to usual care,” Associate Professor Adams said.