Posted 16 January 2024

New early diagnostic test for Friedreich ataxia heart disease

Associate Professor Shiang (MAX) Lim has been awarded funding to work on the development of a new, non-invasive test to diagnose and monitor heart disease in people with a genetic condition that, up until now, has made diagnosis impossible.

Leading a multi-institutional team, Max will use heart organoids to develop a blood test to monitor the onset, progression, and severity of heart disease specific to Friedreich ataxia. Affecting around 1 in 50,000 people, Friedreich ataxia causes progressive damage to the nervous system, muscle and heart tissue.

Although heart disease is the most common cause of premature death in people with Friedreich ataxia,” says Max, “there is currently no reliable way to diagnose and monitor heart disease in people with this devastating disorder.”

“One of the biggest challenges faced by research in this domain is the limited accessibility and availability of viable human heart cells in large quantities for quality research.”

“We will solve this problem by growing human heart cells from Friedreich ataxia patient-specific stem cells and use these to find new biological molecules that indicate the presence of heart disease and reflect its severity.”

Max has been awarded more than $217,000 (USD) from the United States Department of Defence Health Program for this groundbreaking new research.

About the research team

Max and his lab will work collaboratively with: Associate Professor David Greening and Professor Peter Meikle from the Baker Institute for Heart and Diabetes, Professor Marek Napierala from the University of Texas Southwestern Medical Center, and Associate Professor Louise Corben and Professor Martin Delatycki from the Murdoch Children’s Research Institute.

About Friedreich ataxia

Friedreich Ataxia is a rare and progressive neuromuscular disorder that primarily affects the nervous system, muscular system, and the heart. Affecting 1 in 50,000 people, the genetic markers are carried, and can be passed on by 1 in 100 people. The condition is caused by a genetic mutation that affects the production of a protein called frataxin, which is involved in the normal functioning of mitochondria.

Symptoms of Friedreich Ataxia can include progressive difficulty with balance and coordination, muscle weakness, and decreased sensation in the arms and legs. The condition can also cause heart problems such as arrhythmias and cardiomyopathy.

There is currently no cure for Friedreich Ataxia, and treatment is focused on managing symptoms and providing supportive care, such as physical therapy, speech therapy, and mobility aids.

About the grant

Associate Professor Lim has been awarded USD$217,953 by Department of Defense Defense Health Program, Congressionally Directed Medical Research Programs, Peer Reviewed Medical Research Program, Discovery Award, Funding Opportunity Number: HT9425-23-PRMRP-DA.

Sponsoring Agency: The Assistant Secretary of Defense for Health Affairs endorsed by the Department of Defense.

Award number: PR230065