Rare disease network to help solve the health system’s hardest cases

A new network of Western Australian and international rare disease experts is being 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 approximately 7,000 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.

WA is an international leader in a type of precision medicine known as antisense oligonucleotides - which are akin to a 'gene patch' - that has been used to address the muscle wasting caused by rare disease Duchenne muscular dystrophy.

The design and early-stage development of these therapies were undertaken by Professors Steve Wilton AO and Sue Fletcher AO, who are based at Centre for Molecular Medicine and Innovative Therapeutics (CMMIT), a joint research centre between Murdoch University and the Perron Institute.

Professor Wilton AO, Director of the Perron Institute and Foundation Chair of Molecular Therapy at Murdoch University said that faulty DNA results in faulty RNA which causes disease.

"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," Professor Wilton AO said.

"When not in the right order, they can lead to unparalleled suffering and premature death.

We have the technology to scan the bases to confirm a clinical diagnosis and can use this information to make personalised medicines to give hope for those who have none."
Professor Wilton AO
The scientific and medical expertise from CMMIT will be utilised to rapidly design, validate and manufacture ASOs in collaboration with other groups.

For Western Australian patients, these medicines will then be administered through an expanding clinical trials ecosystem in partnership with the Rare Care Centre at Perth Children's Hospital, and for adults via groups including WA's Linear Clinical Research.

People diagnosed through the Undiagnosed Diseases Program and other services can be assessed for suitability for new therapies using a combination of expert knowledge and artificial intelligence.

Professor Gareth Baynam, Medical Director, Rare Care Centre, Perth Children's Hospital explained the potential and collaborative powers of LaunchR.

"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," Professor Baynam said.

"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.

"Right now, it's for one child at a time. Into our future, it's for everyone from children to adults. It's for rare disease, it's for common disease, and it's for everything in between."

Kane Blackman, CEO of Good Sammy Enterprises, is a rare disease advocate and supporter of LaunchR, having a nine-year-old son living with Angelman syndrome - a rare genetic disorder with no cure. 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."
Kane Blackman
"Two Million Australians live with a rare disease, which are the biggest cause of death in children, and only 5% of rare diseases have a specific drug treatment.

"Imagine living with diabetes, asthma, heart disease, cancer or many other common diseases and there was no treatment.

"We need to do more as a society to assist this enormous cohort of people.

Minister for Medical Research Stephen Dawson said the LaunchR was an important collaboration for health in WA that would contribute to the benefit of Western Australians.

"It is wonderful to see local and international collaborations harnessing the existing expertise and capabilities in WA to improve outcomes for patients with rare diseases in WA and globally," he said. Dawson said.

"LaunchR aligns with the Cook Government's key strategies on medical research, such as the Future Health Research and Innovation Fund Strategy and the WA Health and Medical Research Strategy, and has potential to make significant improvements in health outcomes for WA patients with rare diseases.

"This is another important step in strengthening our state's reputation as a world leader in the health and medical research sector."

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.

The network will have linkages with local, national and international teams including Rare Diseases Moonshot Initiative, Mila's Miracle Foundation, Sanford Health, n=1 Collaborative, International Rare Diseases Research Consortium, Nucleic Acid Therapy Accelerator (UK), SingHealth Duke-NUS Institute of Precision Medicine (Singapore), Global Nursing Network for Rare Disease and Undiagnosed Diseases Network International.

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