Category Archive: Friedreich’s Ataxia Center of Excellence

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 >>

Oct 27 2017

Friedreich’s Ataxia Community Stays on Top of Science and Stays in Touch

Patients and families dealing with the rare, debilitating disease Friedreich’s Ataxia showed their true strength at the 10th Annual Friedreich’s Ataxia Symposium held in King of Prussia, Pa. The FA community is a steadfast supporter of research, and they have been gathering for a decade to spend a day with each other building friendships and learning the most up-to-date information on the therapeutic approaches and scientific studies being conducted in the field of FA.

Read the rest of this entry >>

May 20 2016

CHOP Research In the News: Racial Bias, HPV Vaccination, Patient Perspective

CHOP Research In the NewsLooking at ways to improve children’s health from different perspectives is what pediatric research at The Children’s Hospital of Philadelphia is all about. Take a look at three examples in this week’s In the News.

Read the rest of this entry >>

Dec 30 2014

A Year of Distinction

distinctionThe CHOP Research Annual Report contains 43 articles spread among eight sections, this year’s report focuses on the theme of “distinction” and the stories contained within echo that theme and span the research spectrum.

Read the rest of this entry >>

Jul 1 2014

Biomarkers for Mitochondrial Diseases Emerging

mitochondrial diseaseA new approach being developed at The Children’s Hospital of Philadelphia and the University of Pennsylvania could allow investigators to know within days if a chosen therapy reverses the intracellular mechanisms that go awry in Friedreich’s Ataxia (FA), a genetic mitochondrial disease

Read the rest of this entry >>