STRENGTHENING the global effort to CURE neuromuscular disease

Liubov Gushchina, PhD, has been awarded one of the 2024 American Neuromuscular Foundation (ANF) Mid-Career/Established Investigator Research Grants for her research project titled “Advancing care with exon 17 skipping therapy for Duchenne muscular dystrophy.” Her team is motivated by the profound impact of Duchenne muscular dystrophy (DMD) and, despite advances in medicine, the persistent lack of a cure that can reverse or halt the disease.

Dr. Gushchina explains that DMD and Becker muscular dystrophy (BMD) are X-linked allelic disorders that represent the most common type of muscular dystrophy caused by mutations in the dystrophin gene affecting ~ 1 out of 3,600-5,200 males worldwide. Clinically, the absence of dystrophin leads to severe progressive muscle weakness and wasting and premature death due to respiratory and cardiac complications. 

Her team’s long-term goal is to develop a safe and effective exon skipping therapy for DMD patients carrying skip-amenable mutations that flank exon 17. They will utilize the ANF Mid-Career/Established Investigator Grant to support their research, conducting a series of experiments on patient-derived cell lines and a novel mouse model of DMD to achieve their goal. “This research will provide proof-of-concept data to develop highly effective vectorized exon skipping therapies that could then be used to correct the wide range of DMD mutations,” says Dr. Gushchina. “Our developed approach will allow us to treat up to 3.4% of all DMD patients.”

Learn more about ANF research grants and support researchers like Dr. Gushchina, today.