Key points
- Monash researchers have uncovered the hidden 'code' governing how genetic mutations affect RNA splicing and result in disease
- Breakthrough paves the way for treatment and even cures for diseases, including population-specific and rare diseases
- Scientists expected to begin using discovery to develop new treatments based on RNA therapeutics
An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.
This breakthrough, detailed in a new paper published today in Nature Communications, paves the way for mRNA therapeutics that could address serious disease, particularly under-researched conditions that are rare or population-specific.
The code allows researchers to look inside RNA splicing, an essential cellular process that is required to produce proteins in cells that help us grow, develop and function.
Lead researcher, Professor Sureshkumar Balasubramanian of Monash University's School of Biological Sciences, said the finding allows researchers to link disease-associated genetic mutations that affect this process and develop suitable treatment options.
"This is not just hope, this is a clear explorable pathway to a cure for those who are living with some of the most debilitating and life-threatening conditions and diseases," Professor Balasubramanian.
"We expect scientists to begin using this finding right away to inform the development, and cures won't be too far behind that.
"What we are really excited about is that this allows for personalised therapeutic solutions for rare and under-researched genetic conditions and diseases, because we can now pinpoint exactly how they were caused."
mRNA, or messenger ribonucleic acids, are the key intermediates between DNA, the genetic blueprint, and proteins that carry out most of the work in our cells.
RNA splicing ensures proper reading of the blueprint by removing some sections of the RNA, a bit like a book editor taking out unnecessary parts of a story to improve its quality.
Genetic mutations can modify RNA splicing, affecting processes like growth, development and response to external stimuli.
Defective RNA splicing can result in serious and life-threatening genetic conditions and disease, including cancer.
The Monash-led research compared millions of splice-sites, the positions at which cutting and joining of RNA occurs, in plants before moving on to samples of more than 25 different species, including humans.
Professor Balasubramanian said the work was carried out using an innovative tool, SpliSER, developed by his team in 2021 to measure RNA splicing.
"The tool works very effectively, subsequently allowing the assessment of the impact of genetic mutations," Professor Balasubramanian said.
"The SpliSER analysis simply worked like magic and the global patterns we saw were striking."
Professor Balasubramanian is already working to share his findings with groups who are working to address rarer diseases, including those that present in specific populations, including those that may be under-represented in worldwide genomic studies.
Monash Deputy Vice-Chancellor (Research and Enterprise) and Senior Vice-President, Professor Robyn Ward AM said as the home of Australia's largest network of RNA researchers, Monash is at the forefront of translating this vital research into global impact.
"What began as a project in our labs just a few years ago has the potential to help the response to the most pressing health challenges that present in clinics and hospitals across the world," Professor Ward said.
"mRNA research has been a game-changer for the rapid development of life-saving vaccines and has led to research in new therapeutic areas.
"We are proud to be a leader in this emerging research field, working alongside industry and government to continue our tradition for more than 60 years of transforming lives and driving innovation."
The international research team involved scientists and researchers from the Monash Biomedicine Discovery Institute, Monash e-Research Centre, LUM University, Italy, Chinese Academy of Sciences, China and the University of Melbourne.
Read the research paper: doi.org/10.1038/s41467-025-63622-9
