An initiative called the Friedreich’s Ataxia Accelerator has been launched by the Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard University to develop therapeutic strategies for people with the disorder.
Notably, the Accelerator will cultivate a community of researchers focused on understanding the molecular mechanisms underlying Friedreich’s ataxia (FA).
“The goal of the Friedreich’s Ataxia Accelerator is to nucleate a small group of investigators who will bring the power of genomics to this debilitating disease,” Vamsi Mootha, MD, co-director of the Broad Institute’s Metabolism Program, who will lead the effort, said in an institute press release.
The Friedreich’s Ataxia Research Alliance (FARA) provided funding for the accelerator in collaboration with the CureFA Foundation and EndFA. All three organizations support research that may lead to treatments for FA.
“We believe that building a collaborative community of partners and investing in research are essential for the discovery of treatments for FA,” said Jennifer Farmer, CEO of FARA.
The CureFA Foundation previously supported research by Mootha and several collaborators. This work led to the discovery that a low oxygen state — called hypoxia — rejuvenates cells that lack frataxin, the missing protein in people with FA.
The finding suggests that hypoxia, or small molecules that mimic its effects, might be used to treat FA. Work in mouse models of the disorder also revealed that hypoxia improved motor function.
The Friedreich’s Ataxia Accelerator will support the continuation of this research in mice.
“Low oxygen has a huge benefit to these frataxin-deficient cells and mice, but for a human patient, achieving those levels would be like living on a mountaintop in Tibet,” Mootha said. “We’re trying to come up with more practical, safe, and effective ways to harness this totally new biology, think ‘hypoxia-in-a-pill’.”
In another project, Mootha and Gary Ruvkun, PhD, a professor of genetics at Harvard Medical School, will look for new therapies that rescue frataxin-deficient cells by screening thousands of small molecules, approved by the U.S. Food and Drug Administration, in human cells.
The team will also look for a bacteria-derived “probiotic treatment” by testing thousands of bacteria in a worm model of FA. This project will be conducted in collaboration with Broad’s Drug Repurposing Hub.
Other Accelerator-supported investigations will target the genetic roots of FA.
David Liu, PhD, a professor at Broad and Harvard, plans to repair the damaged frataxin gene (FXN) in FA using gene editing tools. In FA, a short segment of this gene is repeated more than normal, which results in the loss of frataxin.
Liu hopes that editing the gene restores frataxin protein levels and eases or prevents symptoms of FA.
Finally, the Accelerator will support so-called “catalyst” projects to explore why, for example, FA only occurs in certain cells of the body.
“These patients need something new,” Mootha said. “At the Broad Institute, we’re excited to bring together a community of researchers that will use the newest genomic technologies to advance the understanding and treatment of this disease.”
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