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In Friedreich’s ataxia, insufficient frataxin protein in cells impairs the ability of mitochondria  to control the production of harmful reactive oxygen species, which accumulates and ultimately triggers nerve cell death, research into a mouse model of the disease revealed. The study, detailing how harm done to mitochondria in nerve cells helps to promote…

A new mouse model of Friedreich’s ataxia, detailed at IARC 2017, exhibits human features of the disease and has the potential to be of ” broad utility” in research into the underlying mechanisms of this common ataxia and ways to fight it. Its development was discussed at a Thursday session, “Translational Models of…

In this Facebook Live Chat, reporter Hal Foster — joined by scientists and leaders of groups working to promote research and patient interests in Friedreich’s and other ataxias — looks back at highlights of the opening day of IARC 2017 in Pisa, Italy. …

Ron Bartek has a long list of accomplishments. He was a West Point graduate and U.S. Army officer, worked on U.S.-Soviet nuclear arms reduction treaties for the State Department in the 1980s, was a congressional staff member, and ran his own public affairs company. But if you ask what his…

New research, presented at IARC 2017, showed that the frataxin gene in cells taken from Friedreich’s ataxia patients produces very little of the frataxin protein in part due to epigenetic marks that essentially tell the gene to switch off. These findings suggest that targeting the epigenetic remodeling of frataxin gene…

A protein called RNF126 mediates the degradation of the frataxin protein in cells of people with Friedreich’s ataxia, a new study presented at IARC 2017 showed. Its researchers suggest that targeting this protein may be a way of treating the disease, as RNF126 inhibition allowed frataxin to accumulate in cells. The study, “E3 ligase RNF126 directly…

A next-generation sequencing technique known as whole exome sequencing (WES) led to new genetic variants for childhood-onset ataxias being identified — including some in genes not previously linked to ataxia, and some that are disease-causing when only one mutation is inherited — Finnish researchers reported at IARC 2017. The presentation, at Wednesday morning’s…

Recent advances in next-generation sequencing techniques are helping to revolutionize genetic testing, potentially ending the “diagnostic odyssey” that ataxia patients can now go through, researchers in Germany said in the opening presentation of the 2017 International Ataxia Research Conference (IARC) in Pisa, Italy. But with such advances come fresh questions and challenges, Matthis Synofzik at the…

A University of Pennsylvania medical professor has won an American Chemical Society award for his pioneering work on the molecular abnormalities that underpin Friedreich’s ataxia. Dr. Ian A. Blair received the 2017 Founders’ Award from the society’s Division of Chemical Toxicology for helping to increase understanding of the abnormalities. Blair is the A.N.

Filomena D’Agostino will never forget Christmas 2002. That was the day her 20-year-old son, Diego, tears streaming down his face, begged her and her husband Bernardo Ruggeri to do something to improve his Friedreich’s ataxia. That fervent plea from their son — who developed the disease at age 6 —…