Doctor listening to child's heartbeat

Murdoch Children’s Research Institute stem cell researchers have secured federal funding to advance research into genetic heart disease.

Dr James McNamara, Associate Professors David Elliott and Mirana Ramialison, Professor Enzo Porrello and Victorian Clinical Genetics Services Professor Zornitza Stark received the $732,251 Medical Research Future Fund (MRFF) Stem Cell Therapies Mission grant for their research into genetic cardiomyopathy – damage to the muscle of the heart. The grant also includes collaborations with Associate Professor Ben Parker from the University of Melbourne, and Professor Perry Elliott and Associate Professor Luis Lopes from Barts Heart Centre and University College London.

Genetic cardiomyopathy is a type of inherited heart disease that affects up to 30 million people globally. The condition makes it hard for the heart to deliver blood to the body, causing breathlessness, swollen legs and feet, and a bloated stomach. Left untreated, it can even lead to heart failure.

“Currently there are limited treatment options for children with genetic cardiomyopathy and patients with end-stage heart failure will need a heart transplant,” lead investigator Dr McNamara said. “We urgently need new therapies to treat children with this condition.”

The team’s research aims to use human stem cells to create a laboratory-based model of genetic cardiomyopathy as a platform to study the disease and investigate the underlying causes.

“We have previously shown that a gene that is associated with cardiomyopathy risk, ALPK3, plays a critical role in heart health.” Dr McNamara said. “Through collaboration with geneticists at Victorian Clinical Genetics Services and Barts Heart Centre, we have identified genetic variants in ALPK3 and its associated partners that cause cardiomyopathy. By studying these genetic variants in our stem-cell platform, we might be able to explain how these variants contribute to the condition with the hope of finding new therapies for these patients.”

Dr McNamarahopes the research will help better understand the genetic basis of this form of cardiomyopathy and potentially lead to the development of new therapies for children with the disease.

Dr James McNamara is a senior research officer in the Heart Disease and Heart Regeneration groups.


This research project (MRF2024440) is supported by the Medical Research Future Fund.

Watch our #MRFFinaminute video series, explaining our MRFF-funded research in short, easily understandable one-minute videos.