News

Researchers at UNC School of Medicine described crucial structural features that enable gene therapy vectors to reach the brain. The discovery is key for neurological diseases with ongoing gene therapy trials, such as Friedreich’s ataxia (FA). The study, “Mapping the Structural Determinants Required for AAVrh.10 Transport across the…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

Serum uric acid (UA) levels are increased in Friedreich’s ataxia patients and may be a disease biomarker as well as a new therapeutic target, Italian researchers suggests. Their study, “Serum uric acid in Friedreich Ataxia,” appeared in the journal Clinical Biochemistry. Friedreich’s ataxia (FA) is a rare…

Researchers are developing a new analytical method, using patients’ platelets, that enables rigorous quantification of frataxin, the protein lacking in patients with Friedreich’s ataxia (FA). Findings of the study ”Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia,” were…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Friedreich’s ataxia patients have a specific personality and neuropsychological profile that is characterized by very mild cognitive impairment, a new study shows. The study, “Personality and Neuropsychological Profiles in Friedreich Ataxia,” was published in the journal The Cerebellum. People with Friedreich’s ataxia (FA) have lesions found primarily…

Researchers found a 50-year-old hypertension therapy can enhance the amount of frataxin protein in cells from patients with Friedreich’s ataxia and mouse models of the disease. The finding was reported in the study, “Effect of Diazoxide on Friedreich Ataxia Models,” published in the journal Human…

Patients with Friedreich’s ataxia have impaired emotion recognition that may be secondary to neuropsychological impairment, according to a study published in the journal The Cerebellum. Expressing and reading emotions are essential social skills necessary for developing relationships, as well as for showing your own feelings. To a great…

The Friedreich’s Ataxia Research Alliance (FARA) and the University of California Los Angeles (UCLA) have joined forces to sponsor a Friedreich’s ataxia (FA) patient symposium in Torrance, California, on Feb. 23. The symposium will be an educational event for people living with FA, including patients and families.