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Key points\u00a0<\/strong><\/p>\n An international team led by\u00a0Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.<\/strong><\/p>\n This breakthrough, detailed in a new paper published today in Nature Communications, paves the way for\u00a0mRNA therapeutics that could address serious disease, particularly under-researched conditions that are rare or population-specific.<\/p>\n 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.<\/p>\n Lead researcher, Professor Sureshkumar Balasubramanian<\/a>\u00a0of Monash University\u2019s School of Biological Sciences, said the finding allows researchers to link disease-associated genetic mutations that affect this process and develop suitable treatment options.<\/p>\n \u201cThis is not just hope, this is a clear\u00a0explorable pathway to a cure for those who are living with some of the most debilitating and life-threatening conditions and diseases,\u201d Professor Balasubramanian.<\/p>\n \u201cWe expect scientists to begin using this finding right away to inform the development, and cures won\u2019t be too far behind that.<\/p>\n \u201cWhat 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.\u201d<\/p>\n 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.<\/p>\n 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.<\/p>\n Genetic mutations can modify RNA splicing, affecting processes like growth, development and response to external stimuli.<\/p>\n Defective RNA splicing can result in serious and life-threatening genetic conditions and disease, including cancer.<\/p>\n The\u00a0Monash-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.<\/p>\n Professor\u00a0Balasubramanian said the work was carried out using an innovative tool, SpliSER, developed by his team in 2021<\/a> to measure RNA splicing.<\/p>\n \u201cThe tool works very effectively, subsequently allowing the assessment of the impact of genetic mutations,\u201d Professor\u00a0Balasubramanian said.<\/p>\n \u201cThe\u00a0SpliSER analysis simply worked like magic and the global patterns we saw were striking.\u201d<\/p>\n Professor\u00a0Balasubramanian 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.<\/p>\n Monash Deputy Vice-Chancellor (Research and Enterprise) and Senior Vice-President, Professor Robyn Ward AM<\/a> 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.<\/p>\n “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.<\/p>\n “mRNA research has been a game-changer for the rapid development of life-saving vaccines and has led to research in new therapeutic areas.<\/p>\n “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.”<\/p>\n The international research team involved scientists and researchers from the\u00a0Monash Biomedicine Discovery Institute, Monash e-Research Centre, LUM University, Italy, Chinese Academy of Sciences, China and the University of Melbourne. \u00a0<\/p>\n Read the research paper:\u00a0doi.org\/10.1038\/s41467-025-63622-9<\/a><\/p>\n MEDIA ENQUIRIES\u00a0<\/strong><\/p>\n Hande Cater\n
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