Researchers to improve diagnosis for genetic disorders Kolling Institute researchers will drive a large, national research project to improve diagnostic rates for those with mitochondrial diseases and broaden treatment pathways.
Kolling Institute Executive Director Professor Carolyn Sue
A $3 million grant from the Medical Research Future Fund has been invested in the project, which involves clinicians, researchers and diagnostic scientists from a host of organisations including the Kolling and the Murdoch Children’s Research Institute. Kolling Executive Director and Project Clinical Lead Professor Carolyn Sue welcomed the funding and said the study would use the latest genome sequencing technology to help diagnose those with mitochondrial diseases. “This technology will build on our earlier research which demonstrated that whole genome sequencing was the best way to identify these diseases,” she said. “In recent years, new DNA technologies have increased our ability to diagnose mitochondrial diseases by more than doubling the detection rate of genetic mutations in affected patients.
“Importantly, we anticipate this new approach combined with ‘omic’ technologies will raise diagnostic rates to over 70 per cent. “This landmark improvement will lead to more patients being diagnosed, opening up more effective treatment pathways and crucially, improving long-term health outcomes.” The technology will offer greater support with family planning and prevent some diseases from being passed on from generation to generation. “Mitochondrial diseases are very difficult to diagnose, and in some cases it has taken many decades for an accurate diagnosis to be confirmed,” Carolyn said.
“I’m really pleased to be leading our talented, multidisciplinary clinical team on this project, which may offer support to a large number of people. “Mitochondrial diseases can have a devastating impact on individuals and their families. The disease robs people of their energy and can affect any organ in the body. “That’s why this research is so important and has a great potential to make a significant improvement to many people’s lives, and not just their lives, but their children’s lives as well.” The project is a collaborative study also involving Kolling researcher Dr Ryan Davis and teams from the Murdoch Children’s Research Institute, Telethon Kids Institute, the University of Melbourne, Monash University, Queensland Children’s Hospital and the Mito Foundation.
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