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Pitt Seed program advances 10 projects to phase four

Ten projects have been selected for phase four of the Pitt Seed program, the recently overhauled internal funding competition. Each will receive up to $75,000 to continue developing their proposals. Six projects are led by faculty and four by staff members.

These 10 projects are moving to phase four of the Pitt Seed Program

Pediatricians ID cause of muscle breakdown in rare disease found on newborn screening

Pediatricians ID cause of muscle breakdown in rare disease found on newborn screening
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Rare genetic disease caused by mutations in protein that controls RNA metabolism

 E-Mail IMAGE: Associate professor of pediatrics, human genetics and neurology, University of Pittsburgh School of Medicine. view more  Credit: UPMC PITTSBURGH, May 7, 2021 - In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia. The disorder, scientists found, is caused by mutations in a protein called GEMIN5 one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease.

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