Translating new therapies for Friedreich ataxia heart disease

Dr Jarmon Lees, St Vincent's Institute of Medical Research

Future Leader Fellowship - Level 1

Years funded: 2025 - 2028

Advancing treatments for Friedreich ataxia heart disease

Friedreich ataxia (FA) is the most prevalent hereditary ataxia, leading to progressive coordination loss. Heart disease is the main cause of mortality among FA patients, with life expectancy averaging only 38 years. Currently, there is no cure or treatment for the heart disease associated with FA, highlighting the urgent need for therapeutic interventions.

Using stem cell models and drug repurposing to accelerate discovery

I am in a unique position to identify new treatments for FA-related heart disease, as my team possesses stem cells derived from FA patients. We utilie these cells to create miniature heart tissue models in the lab, which enables us to precisely assess how FA patient hearts react to novel drugs. This human heart model will be used alongside an established animal model of FA to forge a comprehensive translational research pathway to clinical application.

My research program consists of two parts. The first will be to screen thousands of drugs already approved by the Food & Drug Administration for other conditions. This drug repurposing strategy, not previously attempted for FA, has the potential to expedite the development of treatments for FA heart disease, surpassing the timelines of traditional drug discovery processes.

To compliment this high throughput drug screening approach, I will also explore the therapeutic possibilities of two newly identified genes that are overexpressed in FA. I will determine whether reducing their expression in heart tissue can reverse the cardiac damage observed in FA.