News

Hope for those who have none

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Discovering ground-breaking new treatments for childhood diseases will be the focus of a pioneering and collaborative research project underway in WA, thanks to a major grant from Telethon.

A major funding boost will see researchers and clinicians from the Centre for Molecular Medicine and Innovative Therapeutics (Murdoch University and Perron Institute), Telethon Kids Institute and The University of Western Australia working together to find treatments for rare childhood diseases that currently lack any effective therapy. 

Many rare diseases have a genetic basis, where one or more genes have a faulty DNA sequence, which is translated into a malfunctioning protein.  

Over the past 25 years, researchers from the Perron Institute and CMMIT have pioneered a new generation of drugs known as antisense oligonucleotides or ASOs that can patch over some genetic defects to restore gene functionality.

Approximately 63,000 children in WA have been diagnosed with a rare disease. Sadly, availability of drugs to treat these diseases lag far behind those for more common diseases, even though as many as 8% of Australians live with a rare disease.

With over 7,000 known rare diseases and more being identified every year, the search for ASO treatments is needed now more than ever.

Researchers from the Perron Institute and CMMIT have historically focused on the debilitating disorder, Duchenne muscular dystrophy. This research led to the development of three ASO drugs designed to treat three common types of Duchenne spelling errors. Now approved by the US FDA, these drugs are applicable to more than 30% of Duchenne patients in the USA and have dramatically improved the life of many children, and now young men, with this debilitating condition.

The Telethon-funded project, aptly named ‘Treatment for those who have none’ uses the same type of ‘gene patch’ ASO drugs as used successfully for Duchenne muscular dystrophy to treat Western Australian children with a range of rare genetic disorders.

The team aims to develop a pipeline to identify and develop treatments for WA children living with diseases that currently are regarded as “untreatable”. Even the rarest disease that affects only a single child may be captured in the study.

The project brings together clinical geneticists and laboratory scientists working as a team to identify children with rare genetic conditions and ascertain if ASO drugs can be designed and evaluated as personalised medicines.

The ASO drugs will be tested initially in cultured cells from patients and then, after mandatory safety testing, be evaluated clinically in investigator-initiated clinical trials. The ultimate aim is to shorten the time gap between diagnosis and therapy so that some affected children receive treatment as soon as possible.

“I am so grateful for Telethon’s support," Chief Investigator Dr May Aung-Htut said.

"We are confident that many children with genetic disorders can be effectively treated with antisense oligonucleotides.

"As a researcher and a mother of two, it is exciting and a privilege to contribute to research that could have such a major impact on WA children living with rare diseases.”

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Hope for those who have none

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