Therapeutic Electrical Stimulation for Peripheral Nerve Injury: Gene-Treatment Interactions
In Progress
Status
2025
Grant Year
Mid-Career/Established Researcher Grant
Grant Type
Colin Franz, MD, PhD
Recipient
Shirley Ryan AbilityLab
Location
Project Summary
Peripheral nerve injuries affect millions of people each year, often leading to long-term pain, weakness, and disability even after surgical repair. Therapeutic electrical stimulation, a procedure that applies mild electrical pulses to the injured nerve, has shown promise in improving nerve regeneration and recovery. However, Dr. Franz has come to understand that not all patients benefit equally from this approach, and the reasons for this variability are not well understood.
"One potential factor is genetic differences in the brain-derived neurotrophic factor gene, which plays a critical role in nerve growth and repair," he says. Dr. Franz has found a common genetic variation, known as the Val66Met polymorphism, to be present in about 30% of people, and that it is known to reduce the body's ability to release brain-derived neurotrophic factor in response to activity. "This could limit the effectiveness of therapeutic electrical stimulation," he shares.
Dr. Franz's study will investigate whether individuals with this genetic variation experience poorer nerve regeneration after injury and whether supplementing brain-derived neurotrophic factor can restore their response to therapeutic electrical stimulation. He and his team will test two strategies: direct delivery of brain-derived neurotrophic factor to the spinal cord and a small molecule drug that mimics its effects. The results will help develop personalized treatments, ensuring that patients who do not naturally respond to therapeutic electrical stimulation can still benefit from nerve regeneration therapies.
There are a lot of underrepresented neuromuscular diseases that affect patients who come to our clinics. In order to make discoveries that help patients with some of the less common neuromuscular conditions, having the American Neuromuscular Foundation is essential because it allows us to provide a focus and have a platform for discovery science that impacts other neuromuscular diseases, not just a handful of the most common ones.

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