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NEW YORK – Through a personalized sequencing approach, researchers not only uncovered the mutation behind a patient's unknown autoimmune disorder disease, but also a therapy to treat it. 

Researchers from the Icahn School of Medicine studied the patient, an 18-year-old girl who presented with a range of symptoms hinting at widespread immune dysregulation, as part of an undiagnosed disease program. By sequencing her and her parents, the researchers homed in on a variant in the JAK1 gene, which encodes a kinase involved in key signaling processes. 

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