A team of international scientists led by Monash University has uncovered a previously hidden genetic code that governs how mutations disrupt RNA splicing.
The discovery could revolutionise the treatment of rare, population-specific and complex diseases. The breakthrough, published in Nature Communications, provides a clear pathway to the development of targeted mRNA therapeutics designed to correct disease-causing errors at their molecular source.
The discovery allows researchers to understand precisely how mutations affect RNA splicing, the cellular editing process that ensures genetic instructions are correctly read to produce essential proteins. Disruptions in this process are linked to a range of severe conditions, including cancer and rare genetic diseases.
“This is not just hope, this is a clear explorable pathway to a cure,” said Professor Sureshkumar Balasubramanian of Monash University’s School of Biological Sciences, who led the research. “We expect scientists to begin using this finding right away to inform the development of new treatments. What’s truly exciting is the potential for personalised therapies for conditions that have long been neglected.”
The team used their 2021-developed tool, SpliSER, to analyse millions of splice sites across more than 25 species, including humans, revealing universal patterns that can be exploited to design corrective mRNA therapies.
“This work has the potential to transform the way we respond to some of the most pressing health challenges,” said Professor Robyn Ward, Monash Deputy Vice-Chancellor (Research and Enterprise). “Just a few years ago, this was an ambitious idea in a lab. Now, it could help drive the next generation of therapies.”
The breakthrough is already being shared with global researchers tackling under-researched and population-specific diseases, setting the stage for a new wave of mRNA therapies that move beyond vaccines to potentially curative treatments.