reNEW CEO Professor Melissa Little has been awarded Research Australia’s Peter Wills Medal at Research Australia’s 2026 Health and Medical Research Awards in Sydney.
reNEW Melbourne researchers have used gene therapy to reverse a severe inherited heart disease in preclinical models, paving the way for new treatments that could one day reduce the need for heart transplants in children.
The study, led by researchers from the reNEW Melbourne node, based at the Murdoch Children’s Research Institute (MCRI) and published in Nature Cardiovascular Research, delivered a healthy copy of the ALPK3 gene to lab-grown heart tissue and mouse models of genetic cardiomyopathy. The treatment restored heart function and reversed signs of disease.
Cardiomyopathy is a group of diseases that weaken the heart muscle, making it harder for the heart to pump blood around the body. Genetic forms of the condition are a major cause of heart failure in children and can ultimately require heart transplantation.
Lead author Dr James McNamara said the findings represented an important step towards targeted therapies for inherited heart disease.
“Heart disease is the leading cause of death worldwide and genetic forms of cardiomyopathy are a major reason why children need heart transplants,” Dr McNamara said.
“By delivering a healthy copy of the ALPK3 gene, we were able to repair diseased heart cells and restore heart function. Remarkably, the therapy not only prevented disease in newborn models but also reversed it in adults.”
The team also used stem cell technology to create patient-derived heart tissues carrying the same genetic variant, allowing them to test the therapy in a human model of disease.
reNEW Melbourne Node Director and senior author Professor Enzo Porrello said the study highlights the power of combining stem cell and gene therapy technologies to develop precision treatments for inherited disease.
“Using stem cell-derived human heart tissues enabled us to model genetic heart disease in the laboratory and test a therapy designed to correct the underlying cause,” Professor Porrello said.
“While further work is needed before this approach reaches patients, these findings provide an exciting foundation for the development of targeted treatments for a range of inherited heart conditions.”
The researchers also found that restoring ALPK3 function may have broader applications in other forms of inherited cardiomyopathy, raising the possibility that a single therapeutic strategy could benefit multiple genetic heart diseases.
Read the full story on the MCRI website: https://www.mcri.edu.au/news/news-stories/gene-therapy-breakthrough-restores-heart-function
Researchers from the University of Melbourne and The Royal Children’s Hospital also contributed to the study.
