5 Oxford research projects are aiming for new Friedreich’s ataxia treatments
Scientists net over $100K for each from FA Alliance Innovation Fund
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Scientists at the University of Oxford are embarking on five pioneering research projects — together backed by more than half a million dollars in funding — that aim to advance the discovery of new treatments for Friedreich’s ataxia (FA).
The new projects are being funded by the Oxford-Harrington Rare Disease Centre (OHC), a partnership between Oxford, in the U.K., and the Harrington Discovery Institute at University Hospitals in Cleveland, in the U.S. The OHC, focusing on rare diseases, oversees the FA Alliance at Oxford, which brings together researchers seeking to better understand and treat the inherited disorder.
Working in partnership with an unnamed philanthropic partner, the OHC created the FA Alliance Innovation Fund. Now, through this fund, a total of £100,000 (nearly $137,000) has been awarded to fund each of the five projects, according to an OHC press release.
“The first FA Alliance Innovation Fund awards mark a major milestone for OHC and the FA Alliance,” said Matthew Wood, MD, PhD, director and chief scientific officer of the OHC.
According to Wood, “these projects capture the creativity and ambition needed to change the future for people with Friedreich’s Ataxia. They also show how philanthropy is being deployed to transform early ideas into real progress for patients.”
Wood added: “We’re deeply grateful to our partners, whose support enables this life-changing work. Philanthropy is central to our mission, and we warmly welcome others who share this vision to join us in accelerating breakthroughs for rare diseases.”
A genetic disorder, FA is caused by mutations in the gene FXN, which provides instructions to make frataxin, a protein crucial for energy production in cells.
The most common disease-causing mutation is known as a GAA trinucleotide repeat, where three nucleotides — the building blocks of DNA — are repeated an excessive number of times. This leads the FXN gene to become inactive, resulting in cells that lack frataxin protein.
Projects’ aim: ‘Translating discoveries to treatments’
Two of the newly funded projects aim to better understand exactly how genetic changes lead to the inactivation of FXN in disease-critical tissues. Specifically, one project will focus on the gene’s activity in the brain, while the other will investigate its role in the heart as a way to treat FA-related heart disease.
Both of these studies will use organoids — lab models in which cells are grown in three-dimensional architectures intended to mimic the layout of cells in human tissue.
A third project aims to better understand how proteins interact with the GAA trinucleotide repeat, while a fourth project is directly exploring strategies to turn the inactivated FXN gene back on.
The fifth project, meanwhile, aims to use a combination of artificial-intelligence-based exercise gaming and motion capture to create a new assessment to track disease progression in people with FA.
This [funding] allows us to pursue a high-risk, high-reward approach to Friedreich’s ataxia that could generate entirely new therapeutic possibilities.
“As researchers working on rare disease therapies, early support from philanthropy is often the difference between an idea that stalls and one that has the potential to change lives,” said Carlo Rinaldi, MD, PhD, an Oxford professor leading the project that aims to reactivate the mutated gene.
“This award allows us to pursue a high-risk, high-reward approach to Friedreich’s ataxia that could generate entirely new therapeutic possibilities,” Rinaldi said. “It is a privilege to have this opportunity and to collaborate with the other researchers in the FA Alliance.”
The new projects were applauded by FA-focused advocacy organizations, including Ataxia UK. Julie Greenfield, PhD, Ataxia UK’s head of research, said her group is “delighted to see advancements at Oxford in driving new therapeutic approaches for Friedreich’s … ataxia.”
Jennifer Farmer, CEO of the Friedreich’s Ataxia Research Alliance, said these new research projects “give individuals and families living with FA hope and confidence in our mission to treat and cure” the condition.
“The FA Alliance established by Oxford-Harrington, brings together basic, translational and clinical researchers, and a multi-disciplinary approach, which we believe is essential for translating discoveries to treatments,” Farmer said. “We are grateful for this partnership and commitment from the OHC and its philanthropic partner and look forward to supporting the research teams as they begin this important work.”
