Tag Archive: Human Molecular Genetics

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.

Read the rest of this entry >>

Nov 30 2018

In the News: Sleeping Toddlers, No-Smoking Policies and Lower Blood Pressure, Dr. “Be My Sugar,” Leigh Syndrome, Healthcare Heroes Award

It’s that time of year, again! Can you believe it? Before you get caught up in yards of wrapping paper, strings of lights, and mile-long “to-do” lists, take a moment to read this week’s roundup of research news from Children’s Hospital of Philadelphia. You’ll discover best-practices to get toddlers to sleep — and stay asleep — just in time for the holidays! Learn the identity of our sweeter-than-sugar doctor, the correlation of lower blood pressure and smoke-free policies, and the latest on Leigh Syndrome.

Read the rest of this entry >>