News

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Dimethyl fumarate, an approved therapy for multiple sclerosis (MS), may help people with Friedreich’s ataxia by increasing the amount of frataxin protein that is deficient in these patients, an international research team has found. This suggests that the treatment may help overcome the metabolic impairment characteristic of Friedreich’s ataxia and…

A patient with Friedreich’s ataxia has been dosed with Minoryx Therapeutics’ investigational therapy leriglitazone in the ongoing Phase 2 FRAMES trial, the company announced. This first patient was enrolled at the Hospital La Paz in Madrid, and was administered the new therapy at the end of April…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

The thickness of the layer of nerve cells forming the back of the eye, or retina, may be used as a biomarker of Friedreich’s ataxia (FA) in future clinical trials, a study suggests. The study, “Peripapillary retinal nerve fibre layer thickness in Friedreich’s ataxia: a biomarker for trials?”…

A naturally occurring variant of ISCU2 protein can have the same molecular role as frataxin, an experimental study has found. This discovery may pave the way for the development of new strategies to bypass the effects of frataxin deficiency, which is known to cause …

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

“Excited and beyond belief” is how Ron Bartek, co-founder and president of the Friedreich’s Ataxia Research Alliance (FARA), describes current prospects for finding treatments for the incurable genetic disease that claimed his son, Keith, at age 24. Bartek spoke to Friedreich’s Ataxia News on the sidelines of the recent…

With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…

The oral glucose tolerance test showed higher sensitivity, compared with other diagnostic tools, and was able to detect up to three times more metabolic abnormalities in Friedreich ataxia patients, who commonly experience diabetes and impaired sugar tolerance, according to a small study. “Clinicians in charge of Friedreich ataxia patients and researchers…