A dozen years ago, Joel Gottesfeld became intrigued with the conclusion of a paper he was editing for the Journal of Biological Chemistry. The article that the Scripps Research Institute scientist was reviewing dealt with the gene that codes for frataxin, an essential protein that’s missing in Friedreich’s…
Some 10 years ago, Kyle Bryant and his parents, Mike and Diana, were casting about for a way to make a difference in the fight against Friedreich’s ataxia, the neurodegenerative disorder that Kyle — at age 17 — was diagnosed with in 1998. “We decided that we needed to…
More than 20 presentations at IARC 2017, the recently concluded International Ataxia Research Conference in Pisa, Italy, focused on treatments, demonstrating the progress scientists are making in expanding the therapy pipeline. This observation came from Jennifer Farmer, executive director of the Friedreich’s Ataxia Research Alliance, one of the three…
Protein replacement is one of several cutting-edge approaches to treating ataxias that generated a buzz at IARC 2017, the International Ataxia Research Conference that concluded Saturday in Pisa, Italy. One scientist helping to pioneer this approach is Mark Payne, a pediatric cardiologist, mitochondria expert and Friedreich’s…
Many scientists working on ataxia therapies focus on the movement, balance and heart problems that are the hallmarks of these neurological diseases. But a panel of five patients and caregivers at IARC 2017Â asked researchers Friday not to forget the vision, hearing, and speech difficulties that a lot of patients…
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…
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…
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…
The first International Ataxia Research Conference, in 2015, was a milestone in the quest to find cures for the world’s 40 ataxias, diseases whose hallmark is the loss of muscular coordination. Held in Windsor, England, it was the largest global convention yet to bring together patients, doctors, patient advocacy groups, researchers, pharmaceutical companies, regulators…
Get regular updates to your inbox.