Childhood heart disease (CHD) is the leading cause of death and disability in children, affecting around 65,000 young lives in Australia. Fortunately, researchers across the Murdoch Children’s Research Institute (MCRI) and The Royal Children’s Hospital (RCH) are working to change that.
The Melbourne Cardiovascular Genomic and Regenerative Medicine research program, also known as CardioRegen, is committed to improving health outcomes for children and young people with heart disease. This initiative, spearheaded by Professor Igor Konstantinov and Professor Enzo Porrello, aims to discover the underlying causes and innovative treatments for specific CHDs through genomics and stem cell medicine.
“Each one of our projects aims to either understand the causes of heart disease in children or to come up with new therapies to treat these patients,” explained Dr Adam Piers, CardioRegen’s program manager.
By leveraging CardioRegen’s biobank – a specialised facility dedicated to the collection, preservation, and management of biological samples obtained from patients – the program has been able make significant advancements in understanding the causes of CHD.
The multidisciplinary team working on CardioRegen makes full use of these samples through genomic testing and drug screening. This includes analysing blood samples to identify which genes are causing CHD. It also involves bioengineering “mini heart tissues” from patient stem cells so researchers can safely trial drug or treatment options outside the body.
“The generous philanthropic support we have received for CardioRegen has allowed us to bridge the gap between the lab at MCRI and the doctors who care for the patients at RCH. Previously, we weren’t able to access these precious patient samples but now, we are able to collect these samples – which would have otherwise been discarded,” explained Adam.
Since CardioRegen first received funding in 2017, the program has collected over 3,000 samples from more than 800 patients. These samples have played a pivotal role in supporting the CardioRegen program and helping to bring over 20 different research projects to life.
Life-saving heart patches
One of the most advanced research projects that CardioRegen’s researchers have been working on, thanks to the generosity of philanthropy, is a stem cell therapy in the form of heart tissue patches. These patches would replace and repair damaged heart tissue, potentially revolutionising the future of cardiac care.
“These patches are bioengineered heart tissues that would be sutured onto the outside of the hearts of patients who are in heart failure and have the potential to be an alternative to heart transplantation,” Adam explained.
Uncovering rheumatic heart disease
MCRI researcher working in the lab with stem cells
Rheumatic heart disease (RHD) is a condition that disproportionately affects Australia’s Indigenous community at a rate of 95 per cent. Typically starting out as a sore throat, if left untreated, it can develop into acute rheumatic fever that can lead to RHD –scarring the heart valves and causing heart failure.
While mainstream cardiac research projects focus their efforts on disease management, the CardioRegen team are determined to better understand the underlying causes of why acute rheumatic fever turns into RHD, with the hope of developing a novel, life-changing treatment. Thanks to the infrastructure available at the MCRI and RCH, the team have been able to fully utilise patient samples from the CardioRegen biobank and get a better understanding of the disease.
“Currently, we are using stem cells to make heart valves to search for clues as to why acute rheumatic fever progresses to RHD. From there, we hope to develop a drug or therapy for patients living with RHD,” Adam explained.
Looking forward, Adam and the CardioRegen team are incredibly excited about the potential of their research to transform the lives of children and young people with CHD. Equally, they know first-hand the power of philanthropy to help drive ground-breaking research and deliver world-first treatments. Loti & Victor Smorgon Family Philanthropy and the Shine On Foundation have been instrumental in making CardioRegen and their life-saving work possible, for which Adam and the team are profoundly grateful.
“I would like to say thank you to those who have supported and funded this work, and in particular Loti & Victor Smorgon Family Philanthropy and the Shine On Foundation. The support we have received for CardioRegen has helped us to create a research pipeline from patients in the hospital to stem cells in the lab, which will hopefully one day deliver a therapy back to the patients,” Adam shared.
“We’re all very passionate about trying to develop new therapies for CHD so children can live happy and fulfilled lives, and philanthropy is helping to make that a real possibility,” he concluded.