News

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 —…

One of the most encouraging developments in ataxia research these days is a surge in therapies advancing to the clinical trial stage. This has put a premium on trial design, which means that many of those going to the Second International Ataxia Research Conference (IARC) in Pisa, Italy, set for…

Dozens of scientists from universities and pharmaceutical companies will come together at the 2nd International Ataxia Research Conference in Pisa, Italy, Sept. 27-30 to discuss new strategies for addressing the underlying mechanisms of ataxias. The conference will focus in particular on inherited ataxias, or those with a genetic cause. Since…

Missing 184 class periods in a year due to fatigue. Having someone tell the school principal you’re drunk because of your walking problems. Being belittled because of your slurred speech or hearing problems. Those were some of the situations that Friedreich’s ataxia patients told U.S. Food and Drug Administration officials…

Editor’s Note: The 2017 symposium had to be canceled because of Hurricane Irma, but the Energy Ball event was held as planned. The Friedreich’s Ataxia Research Alliance teams up with the University of South Florida next week on a patient-oriented symposium spotlighting the latest developments in the quest to cure…