A new network of Western Australian and international rare disease experts has been formed to develop precision medicines for the trickiest – and sometimes undiagnosed – cases across our hospital system.
Affecting around 500,000 children in Australia, rare diseases are the biggest killer of children in developed countries, with 95% of the 7000 known rare diseases not having an approved therapy.
The new network, LaunchR, seeks to change this.
An initial project is now underway to identify patients with ultra-rare diseases that are suitable for personalised therapy development using medical science developed here in WA.
It uses a type of precision medicine known as antisense oligonucleotides (ASOs) – akin to a ‘gene patch’ — that have been used to address the muscle wasting caused by Duchenne muscular dystrophy.
The design and early-stage development of these therapies were undertaken by Professors Steve Wilton and Sue Fletcher, based at the Centre for Molecular Medicine and Innovative Therapeutics — a joint research centre between Murdoch University and the Perron Institute.
Professor Wilton, Director of the Perron Institute and Foundation Chair of Molecular Therapy at Murdoch University, said that faulty DNA resulted in the RNA errors which caused many rare diseases.
“Our genome is made up of life’s letters – A, C, T, G. When in the right order, these “life letters”, called bases or nucleotides, are the building blocks of health and well-being,” he explained.
“When not in the right order, they can lead to unparalleled suffering and premature death. Rare diseases are the biggest cause of death in children, yet only 5% have a specific drug treatment.
“Imagine living with diabetes, asthma, heart disease, cancer, or many other common diseases and there was no treatment.
“As a father of a child living with a rare disease that currently has no available drug treatment, I am thrilled to see this capacity being built to help transform and save lives – we need to do more as a society to assist this enormous cohort of people.”
WA patients will have the opportunity to access medicines through an expanding clinical trials ecosystem developed in partnership with the Rare Care Centre at Perth Children’s Hospital and Linear Clinical Research.
LaunchR will also collaborate to develop tailored solutions for more equitable access to rare disease treatments and clinical trials that will include First Nations Australians who are currently under-represented in clinical trials and experience challenges in accessing new therapies.
“We have the people, we have the partnerships, we have the platforms – it’s time to connect the expertise to new technology and scale and transform healthcare,” according to Professor Gareth Baynam, Medical Director of the Rare Care Centre.
“We are coming together for the 63,000 children in WA living with a rare disease, and for the remaining 2.5 million Western Australians and beyond.”