New technology that can detect genetic diseases normally unable to be identified is coming to Perth, and will be only the second of its type in Australia.
A Bionano Sapphyr instrument will be installed at PathWest’s Diagnostic Genomics, in a partnership with the Harry Perkins Institute and FSHD Global Research Foundation.
FSHD, or facioscapulohumeral muscular dystrophy, causes progressive muscle weakness and wasting, making everyday tasks like walking, talking, smiling, or even eating impossible.
The equipment will allow 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 equipment and the appointment of a medical scientist to get the machine up and running.
The FSHD Global Research Foundation was established by former Macquarie Bank Executive Director and Group Head, Bill Moss, who was with the organisation for 22 years before leaving in 2007 due to the effects of FSHD.
Mr Moss was told at 28 that he wouldn’t be able to walk or even hold a coffee cup in the future.
According to the foundation, 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.
Head of the Rare Disease Genetics Group at Harry Perkins Institute, Dr Gina Ravenscroft, said the funding recognised the genetic neuromuscular disease diagnostics and research in WA led by Prof Nigel Laing and Dr Mark Davis.
“Our first goal in this project is to deliver improved diagnostics for FSHD patients across Australia,” she said.
“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 one in 7,500 Australians, and 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 included 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,” Dr Ravenscroft said.
“They can know what’s ahead for them and make plans and choices.”