Gene therapy at UVA Health helping patients with spinal muscular atrophy

Published: Jan. 27, 2023 at 6:07 PM EST
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CHARLOTTESVILLE, Va. (WVIR) - One UVA doctor is working to help people with DNA complications live full lives.

Doctor Anna Jesus is a UVA pediatrician. She sees patients with spinal muscular atrophy, or SMA.

“Gene replacement therapy is when we deliver a gene that a person is missing, back into their body,” Dr. Jesus said. “The patients do not have the gene survivor motor neuron 1, which creates survivor motor neuron 1 protein.”

The condition makes it so that children face numerous muscular problems.

“The patient is not able to move as they normally would be able to move, and gradually lose the ability to eat and to breathe,” Dr. Jesus said.

With the help of UVA Health and cutting edge technologies, that’s changing.

“Gene replacement therapy is an infusion right now. It’s an IV infusion, so we place an IV into a patients vein and then they are infused with this gene replacement therapy over the course of an hour,” Dr. Jesus said.

The treatment is life saving, and patients like Isabel are better than ever.

“Isabel, her family lives on a farm and they’ve really, worked hard to get her to be as involved in the farm life as possible,” Dr. Jesus said. “She is moving around helping and doing chores and feeding the goats and it’s phenomenal.”

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