UPMC, Pitt Pediatricians Uncover Cause of Debilitating Muscle Breakdown in Rare Disease Found on Newborn Screenings

Jerry Vockley, MD, PhDPITTSBURGH, June 28, 2021 – It was a nagging mystery: A rare-disease expert at UPMC Children’s Hospital of Pittsburgh had found a successful treatment for two of the deadliest symptoms of one of the more common classes of rare diseases diagnosed by newborn screenings, but one symptom—painful episodes of muscle breakdown that land victims in intensive care—persisted. 

Today, the scientists announce in the journal Clinical & Translational Immunology that they’ve gotten to the bottom of the self-destructive syndrome and have a good lead on a treatment.

This research was funded by National Institutes of Health grant R01 DK78755 and an IRG Award from the Nancy E. Taylor Foundation for Chronic Diseases Inc.

Abbe de Vallejo, PhD

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Top photo: Jerry Vockley, MD, PhD, director of the Division of Genetic and Genomic Medicine at the University of Pittsburgh School of Medicine, Department of Pediatrics, director of the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh, and professor of pediatrics and human genetics. Credit: UPMC

Bottom photo:  Abbe de Vallejo, PhD, associate professor of pediatrics, immunology, and rheumatology at the University of Pittsburgh School of Medicine and director of the Flow Cytometry Core. Credit: UPMC