Muscular Dystrophy Association and Friedreich’s Ataxia Research Alliance Announce Collaborative Research Grant to Leverage Novel Gene-Editing Technology to Address Root Cause of Friedreich’s Ataxia Disease Muscular Dystrophy Association

Muscular Dystrophy Association and Friedreich’s Ataxia Research Alliance Announce Collaborative Research Grant to Use Novel Gene-Editing Technology to Address Root Cause of Friedreich’s Ataxia Disease

The grant will help diversify research approaches to improve the likelihood of successful treatments for the degenerative progressive disease, which affects 1 in 40,000 people worldwide and for which current treatment options are limited.

NEW YORK, April 17, 2024 The Muscular Dystrophy Association (MDA) and the Friedreichs Ataxia Research Alliance (FARA) today announced a $300,000 collaborative grant to Jonathan Watts, Ph.D., Professor of RNA Therapeutics; Erik Sontheimer, Ph.D., Biomedical Research Pillar Chair and Professor of RNA Therapeutics; Scot Wolfe, Ph.D., Professor of Molecular, Cellular and Cancer Biology; Wen Xu, Ph.D., Associate Professor of RNA Therapeutics, research group at UMass Chan School of Medicine. The funding will further research into using novel genetic technologies to treat Friedreich’s ataxia (FA). The grant, Pair Prime Editor to treat Friedreich’s ataxia, Involving Prime Editing (PE), a next-generation CRISPR gene-editing tool that can precisely target the removal of GAA expansions in the frataxin (FXN) gene.

FA gene editing is an attractive therapeutic option because after removal of GAA repeats, the edited FXN gene will remain under the control of its natural regulators, alleviating concerns about frataxin overexpression.

Our research team is excited to leverage multidisciplinary expertise to address the unique challenges of developing PE for FA. To demonstrate robust and specific removal of GAA repeats from the FXN gene in human FA cells, this promising new technology required optimization in multiple aspects.explain Dr. Watts, UMass Chan School of Medicine. I thank the Muscular Dystrophy Association and the Friedreich’s Ataxia Research Consortium for jointly supporting this study.

The team will compare the ability of several PE methods to remove GAA repeats in FA cells, with the goal of identifying the best tool that can provide high editing efficiency and reduce the rate of off-target modifications to the genome. The researchers also designed a system called split primer editing, in which the two halves of the primer editing mechanism are delivered as separate molecules. This approach allowed them to quickly test combinations of editing enzymes with desired properties.

“We are proud to co-fund this research with FARA. Our organizations have a long history of collaboration, including previous collaborations with the FARA Clinical Research Network, for the benefit of the families we serve. This research funding adds to the groundbreaking Possibility of genetically targeted therapy for patients with Friedreich’s ataxia,” says Dr. Sharon Hesterlee, Chief Research Officer, MDA. “Early-stage research in this area has shown great promise, and we hope to accelerate progress in treatments.”

This prime-editing treatment is designed to directly address the cause of the disease, a GAA amplification in the FXN gene. Funding from MDA and FARA will support the diversification of research opportunities, thereby increasing the chance of methodological success.

This additional funding source helps diversify treatments to slow, stop, reverse and ultimately cure Friedreich’s ataxia, said Jennifer Farmer, CEO, Friedreich’s Ataxia Research Alliance. Our strategy at FARA is to fill the pipeline through a range of targeted approaches, and we are excited about the opportunity to collaborate with researchers from the Muscular Dystrophy Association and UMass Chan School of Medicine to develop this promising area of ​​research.

As someone who has two sons with Friedreich’s Ataxia, I appreciate the collaborative efforts of MDA and FARA, saying Tom Henry, MDA Family Member. This new funding is another reason to hope for more targeted treatments for this disease, and we thank these researchers for prioritizing this novel research. This research funding for treatment breakthroughs reminds our families that we are not alone.

People with Friedreich’s ataxia (FA) experience problems with motor balance and coordination, resulting in life-changing loss of mobility. Other common symptoms include fatigue, severe heart disease, scoliosis and diabetes. FA is inherited from a recessive gene from both parents. Symptoms usually appear in childhood or early adolescence and tend to worsen over time.

Since its inception, MDA has invested more than $20 million in FA research. MDA is proud to support this grant through its funding art and soul Benefit provided by Schnucks, a campaign dedicated to finding a cure for Friedreich’s ataxia.

About Farah:

The Friedreich’s Ataxia Research Alliance (FARA) is a national 501(c)(3) non-profit organization dedicated to the pursuit of scientific research into the treatment and cure of Friedreich’s Ataxia. FARA’s mission is to integrate and focus the resources and relationships needed to treat FA by raising research funds, raising public awareness, and coordinating scientists, patients, clinicians, government agencies, pharmaceutical companies, and other organizations working to treat FA and related diseases. . To learn more, visit cururefa.org and follow FARA on Instagram, Facebook, XLinkedIn and YouTube.

About the Muscular Dystrophy Association

The Muscular Dystrophy Association (MDA) is the nation’s #1 voluntary health organization serving people with muscular dystrophy, ALS and related neuromuscular diseases. For more than 70 years, MDA has been a leader in accelerating research, advancing care and advocating for support for our families. MDA’s mission is to enable the people we serve to live longer, more independent lives. To learn more, visit mda.org and follow us on Instagram, Facebook, XThreads, TikTok, LinkedIn and YouTube.