The Potential of Genetic Therapies in Neuromuscular Diseases: Stephan Züchner, MD, PhD

WATCH TIME: 5 minutes

“What is special about neuromuscular diseases—say 30 years ago—is that they are dominated so much by genetics. Specifically, by a type of genetics called single gene genetics, where a single gene can explain a disease in a given person. There are hundreds of genes that are now known to cause different subtypes of neuromuscular disorders. That is certainly unique, in some ways, for neuromuscular disorders, sort of the breadth of this genetic universe.”

Analyzing large amounts of data is critical for developing and accelerating treatments for neuromuscular diseases, including gene therapies, which have begun to gain momentum in the clinical pipeline. In neuromuscular diseases, genetics play an important role as some of these conditions are inherited, thus raising the importance for genetic testing. Gene therapies, which are becoming more commonly used for treatment of neuromuscular diseases, have potential to help with prevention and management of symptoms.

At the recent 2023 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, March 19-22, in Dallas, Texas, Stephan Züchner, MD, PhD, presented a talk on new trends in rare disease genetic studies. The session showcased 3 examples of large data utilization as well as the cooperative advanced technologies used to analyze large-scale data. Experts in neuromuscular disease research covered basic questions related to conducting research, information about the applied and genetic sciences, and also translation projects.¹

Züchner, professor of human genetics and neurology at the University of Miami Miller School of Medicine, sat down with NeurologyLive® in an interview at the conference to discuss genetic therapies for neuromuscular diseases. He also spoke about important aspects of care for patients in terms of diagnosis, management, and treatment. In addition, Züchner talked about the impact genetics have on neuromuscular diseases and where further research may be needed.

Click here for more coverage of MDA 2023.

REFERENCES
1. Züchner, S. New Trends in Genetic Studies of Rare Diseases. Presented at: MDA Clinical & Scientific Conference; March 19-22, 2023; Dallas, TX. Large-Scale Data Approaches to NMD Research session.