Tag Archive: Division of Neurology

Jan 14 2019

Why is Targeting GRP75 a Novel Strategy for Treatment of Friedreich Ataxia?

The findings:

Friedreich ataxia (FRDA) is a rare, progressive autosomal recessive neurodegenerative disease characterized by progressive gait and limb ataxia; cerebellar, pyramidal, and dorsal column involvement; visual defects; scoliosis; and cardiomyopathy. FRDA is caused by transcriptional silencing of the frataxin gene and consequential deficiency of frataxin, a mitochondrial protein crucial for iron–sulphur cluster biogenesis and adenosine triphosphate (ATP) production. ATP stores and transports chemical energy within cells. Currently, no therapy is available to slow down the progression of FRDA.

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May 18 2018

Pediheart Podcast, EPA Asthma Award, Walk for Hope, Antibiotics and Kidney Stones, Gilyena Approval, Autism Challenge

In our latest roundup of Children’s Hospital of Philadelphia research headlines, learn how our investigators took their discoveries from the bench to the bedside (and beyond), gaining local and national recognition for their hard-earned advances in interventional cardiology practice, asthma management, multiple sclerosis (MS), and more. On top of that, we give you updates on April’s successful Walk for Hope and share our excitement for this Saturday’s Eagles Autism Challenge — two fun-filled family events that illustrate just how much scientific breakthroughs rely on both the community and our scientists.

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