A team of researchers at The Kids Research Institute Australia has made significant strides in solving the mysteries of fatal and rare genetic disorders thanks to funding from the Zac Pearson Legacy, a structured giving sub-account within the Equity Trustees Charitable Foundation.

The legacy’s support has recently enabled the team to crack a 10-year-old mystery surrounding a rare mitochondrial disease and just why it was causing heart failure in children.

“Mitochondrial disease is very difficult to find treatments for,” says Simmone Sharp, manager, philanthropy major gifts, at The Kids Research Institute Australia. 

“This specific mutation was affecting the heart. When it’s in one location and you can understand the mystery of what’s happening, then there’s potential for a treatment to be developed, which is exciting.”

The researchers have also been able to improve the rate and speed of diagnosis from years to months, identifying three new paediatric patients in Western Australia. Most patients were previously sent for molecular diagnosis outside of WA and even then, many remained undiagnosed.

“Just to have that diagnosis is so important to personalise treatment and planning,” Simmone says. 

Parents Alisa and Todd have a deeply personal connection to this groundbreaking research, which they are supporting through multi-year funding. After their 22-month-old son Zac passed away unexpectedly in his sleep in 2009, they decided to honour him and help other parents avoid the same tragic experience by setting up the Zac Pearson Legacy to fund research into sudden unexpected deaths in children.

The Legacy’s ongoing investment has also helped support the salary of Dr. Danielle Rudler, a PhD researcher with unique expertise in energy metabolism and diagnostics, who is a key part of Professor Aleksandra Filipovska’s team at the Kids Research Institute.

“Philanthropy plays a really important role in supporting early to mid-career researchers as they launch their careers,” Simmone says. “It’s a really difficult time in their career because they don’t have that track record, which can cause big delays in their research and cause career insecurity.”

Professor Filipovska’s research team is continuing to work on finding ways to diagnose paediatric patients and develop tailored treatments for genetic disorders across neurological, cardiovascular, and metabolic diseases that currently lack treatments.

Their work also includes new pre-clinical models of genetically inherited metabolic and neurological disease, as well as small drugs for treatment of metabolic diseases.

The Zac Pearson Legacy’s ongoing investment in research is a testament to the impact that dedicated funding can have on the lives of others. Its support is allowing the research team to make a significant difference to patients through a faster diagnosis, paving the way for future treatments that are sorely lacking, while supporting scientists to make medical advances.

Sub-accounts within the Equity Trustees Charitable Foundation, a public ancillary fund are established by philanthropic individuals, families and organisations that are committed to directing their giving in a strategic way, creating legacies that can often last forever.