Researchers at the Lions Eye Institute and Murdoch University are collaborating with a world-leading American researcher to expedite new treatments for Usher syndrome, thanks to a scientific paper.
The paper, written by researchers from the Institute’s Ocular Tissue and Engineering Laboratory was picked up by American researcher and doctor, Dr Timothy Yu from Boston Children’s Hospital. Dr Yu specialises in finding genome-guided treatments for children with rare diseases.
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- Dr Samuel McLenachan in laboratory.
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- Dr Samuel McLenachan and Professor Fred Chen.
The paper details the production of a stem cell from a patient with Usher syndrome. Dr Yu has a patient with the same mutation and became interested in the development of antisense oligonucleotide drugs for its treatment. The mutation in question is an error in the processing of the USH2A gene, leading to the loss of USH2A gene expression. Antisense olionucleotide drugs designed to target the mutation and block its effects could potentially be used to treat Usher syndrome patients and are currently being developed at the Lions Eye Institute through the recently awarded Medical Research Future Fund Grant.
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- Dr Samuel McLenachan and his research team.
Professor Steve Wilton AO, Dr May Aung-Htut from Murdoch University with Khine Zaw and Dr Samuel McLenachan from the Lions Eye Institute have met with Dr Yu over video call and have established a collaboration with his team to conduct further drug validation studies, sending stem cell lines and drugs to Boston to be replicated, extending the initial research groundwork.
Obtaining rapid FDA (Food and Drug Administration) approvals for these kinds of drugs may help expedite this drug towards the clinical use in patients.
