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Injection of Virus-Delivered Gene Silencer Blocks ALS Degeneration, Saves Motor Function
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Researchers Discover Treatment Option for Rare Genetic Disorder

Medical Xpress

Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old girl since infancy.

The technology, tailored to the patient's own genetic code at a single cell level, helped the researchers characterize an unknown mutation in a gene called JAK1 that caused the patient's immune system to be permanently turned on, resulting in rashes over much of her skin, growth abnormalities, kidney failure, allergic hypersensitivities, and an unusual inflammatory condition throughout the digestive tract ...