Last week marked International Women’s Day (March 8), and while we recognize the remarkable women in science and healthcare at the Research Institute every day of the year, it seems especially fitting that this news roundup features some of those role models as they receive accolades and awards. Hematology researcher, Lindsey George, MD, was honored for her breakthrough work in developing a gene therapy for hemophilia B, while our CEO and President, Madeline Bell, ranked on the Top 25 Women Leaders list by Modern Healthcare. Meanwhile, in other news, researchers published findings on obesity and vitamin D, the use of machine learning for early sepsis detection, and a promising drug to treat some mitochondrial disorders.
Tag Archive: Human Molecular Genetics
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.
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.