New technology that can detect genetic diseases previously unable to be identified is coming to Perth. It is the second of its type in Australia.
A Bionano Sapphyr instrument will be installed in Diagnostic Genomics, PathWest in a collaborative partnership between the Harry Perkins Institute of Medical Research, PathWest and FSHD Global Research Foundation. It will facilitate new diagnostic genomic tests for patients and cutting-edge genomic research in coming months.
A $516,000 grant from the FSHD Global Research Foundation will fund the purchase of the Bionano instrument and reagents and the appointment of a medical scientist to get the machine running.
The FSHD Global Research Foundation was established by former Macquarie Bank Executive Director and Group Head, Bill Moss AO who was with Macquarie Group for 22 years before leaving in 2007, due to the effects of the muscle-wasting condition, FSHD. Mr Moss was told at 28 that he wouldn’t be able to walk or even hold a coffee cup in future. FSHD Global Research Foundation remains dedicated to finding a treatment and cure for FSHD, with improved diagnostics within Australia the critical next step.
Facioscapulohumeral muscular dystrophy (FSHD) causes progressive muscle weakness and wasting, making everyday tasks like walking, talking, smiling, or even eating impossible.
Chairperson of FSHD Global Research Foundation, Natalie Cooney, said that FSHD patients in Australia can wait anywhere from six months to two years for a diagnosis, with some samples having to be sent overseas for analysis.
“This is just not good enough and we believe Australian’s deserve access to world class diagnostics.
FSHD Global Research Foundation is the only Australian organisation investing in medical research and education for FSHD.
“With no government funding, we rely on the generosity of our patient community and corporate donors to drive progress in fighting this disease for Australians. We are actively fundraising to support this half a million dollar grant.”
“Implementation of these new diagnostics will fundamentally change the landscape of FSHD in Australia. “We now see a pathway for future clinical trial sites in Australia and for this country be an integral part of the global efforts to find a treatment and a cure. Australians living with FSHD will finally have accurate, affordable diagnostics and hope for the future”, she said.
Head of the Rare Disease Genetics Group at Perth’s Harry Perkins Institute of Medical Research, Dr Gina Ravenscroft, said the award of this funding recognises the excellence in genetic neuromuscular disease diagnostics and research in Western Australia led by Prof Nigel Laing AO and Dr Mark Davis (PathWest).
“Our first goal in this project is to deliver improved diagnostics for FSHD patients across Australia.
“Many neurodegenerative diseases, like FSHD have very large mutations on the DNA that are too long to detect using traditional DNA sequencing techniques.
“This new technology can detect the genetic defect causing FSHD, the second most common neuromuscular disease in Australia, affecting 1:7,500 Australians. It can also detect a range of other neuromuscular diseases.
“Instead of using DNA sequencing the Bionano uses a fluorescent marker to optically map ultra-long DNA fragments. This approach of using ultra-long DNA fragments allows for the detection of types of genetic defects that can’t be easily picked up with normal DNA sequencing. These include repeat expansions and contractions, and other types of structural variants that remain elusive, including the genetic cause of FSHD.
“Getting an accurate genetic diagnosis has important implications for patients and their families. They can know what’s ahead for them and make plans and choices. An accurate genetic diagnosis is also a key part of allowing the Australian FSHD community to become ready for clinical trials of potential treatments for FSHD as they become available,” Dr Ravenscroft said.
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