3 US scientists each win FARA grant for research on treatments
Nonprofit funds new work into stem cells, heart and eye problems
Three researchers in the U.S. have each been awarded a grant from the Friedreich’s Ataxia Research Alliance (FARA) to explore new strategies for treating Friedreich’s ataxia (FA), the nonprofit announced on its scientific news page.
The newest FARA grant recipients are three professors from across the U.S. — Stephanie Cherqui, PhD, from the University of California, San Diego, Mark Payne, MD, from the Indiana University School of Medicine, and Shannon Boye, PhD, from the University of Florida.
Their work is focused on stem cells, and on finding therapies for heart and eye problems.
“FARA’s mission is to marshal and focus the resources and relationships needed to cure FA,” the organization states on its website, adding that its work focuses on “aligning scientists, patients, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to curing FA and related diseases.”
1 grant will fund further research into disease-causing mutations
Cherqui’s work is focused on the underlying causes of FA.
FA occurs due to mutations in FXN, the gene providing instructions for making a protein called frataxin. Within cells, frataxin is needed for the healthy functioning of energy-producing structures called mitochondria, otherwise known as the powerhouses of cells.
When frataxin is deficient, mitochondria may not produce enough energy to supply cells, which become damaged, leading to symptoms of FA.
In previous work, Cherqui’s team corrected disease-causing mutations by editing the FXN gene in lab-grown stem cells. When transplanted back into mice modeling the disease, the edited stem cells eased some of the symptoms of FA.
Stem cells are able to develop into many different cell types, and Cherqui has put forward the hypothesis that the edited stem cells can turn into microglia, the brain’s immune cells, and transfer frataxin into damaged neurons, or nerve cells.
Now, her team wants to further advance this hypothesis, and understand how microglia contribute to FA. A key focus is whether gene-edited stem cells may lead to a treatment for the disease.
“This work will advance our understanding of microglia-neuron interactions and provide supporting evidence for the development of gene-edited stem cells as a potential treatment for FA,” FARA wrote on the page announcing Cherqui’s award.
1 grant will help test MD therapy for Friedreich’s ataxia
The other two scientists will use their grant funding to delve into research on specific issues related to FA.
About three in four people with FA develop cardiac (heart) problems, often causing fibrosis, or the thickening and scarring of the heart tissue. Fibrosis can lead to heart failure, which occurs when the heart cannot pump enough blood to meet the body’s needs.
Like FA, Duchenne muscular dystrophy (DMD) also causes cardiac problems. Ifetroban, an oral medication in the pipeline of Cumberland Pharmaceuticals, improved heart function and survival in a mouse model of DMD and is now in clinical testing in Duchenne patients.
Payne’s team will use the new grant to test whether ifetroban also reduces fibrosis in the heart tissue of mice with FA, and whether it can prolong their lifespan.
If successful, this will provide the preliminary data needed to support a clinical trial in humans with FA-related cardiac disease.
“This work will study the mechanism of fibrosis in the FA heart and test a potential treatment for it,” FARA wrote on its grant announcement. “If successful, this will provide the preliminary data needed to support a clinical trial in humans with FA-related cardiac disease.”
While less recognized, people with Friedreich’s ataxia may experience eye and vision problems, in part due to the loss of retinal ganglion cells. These are a type of neurons located near the inner surface of the eye’s retina, which is the light-sensitive layers of nerve tissue at the back of the eye.
Boye’s lab has developed a mouse model of vision loss in FA by removing frataxin from retinal ganglion cells. The team now will work to design a gene therapy that delivers frataxin directly into the eye, testing its safety and efficacy using the mouse model.
“In addition to gene therapy, this mouse model has the potential to be useful in the development of other therapies that address vision loss in FA,” FARA wrote in the page announcing Boye’s grant.
FARA’s grant program supports projects across the spectrum from basic to clinical research with the goal to understand the mechanisms behind FA and move closer to developing effective treatments for the disease.
The amounts of the grants were not disclosed by FARA.