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Intimate and focused, conferences like IARC 2017 — the International Ataxia Research Conference — are the type of scientific meeting that “all rare disease patient groups should try to do,” Warren Huff, the founder and chief executive officer of Reata Pharmaceuticals, said in an interview with Friedreich’s Ataxia…

Problems in the somatosensory (sensory nervous) and auditory systems of patients with Friedreich’s ataxia are potential biomarkers of early sensory damage, according to a small study. The research, “Cortical responses and change detection to auditory and somatosensory stimuli in Friedreich ataxia,” was presented at IARC 2017  by Gilles Naeije of the Service…

In this Facebook Live Chat, reporter Hal Foster — joined by two leading Friedreich’s ataxia researchers, Louise Corben with the Murdoch Childrens Research Institute in Australia, and David Lynch with Children’s Hospital of Philadelphia — looked back at day three of IARC 2017 in Pisa, Italy, and toward what the future might…

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 sessions and other happenings on the second day of IARC 2017 in Pisa, Italy. IARC is the world’s largest…

Although clinical manifestations of their disease varies widely, patients with most common types of spinocerebellar ataxias (SCA) experience a similar decline in quality of life and daily activities, according to results from the long-term EUROSCA study presented at IARC 2017 on Thursday. The results were given by Heike Jacobi with the German…

People with Friedreich’s ataxia lose the crucial capacity to move freely around age 25, according to a large and ongoing study by an international network of clinical centers devoted to research into this common ataxia. The study, “Detailing the natural history of Friedreich’s ataxia – loss of ambulation in the CCRN-FA study,”…

The European Union is supporting a number of  projects focused on the natural history of several spinocerebellar ataxias, projects that look at disease course over time — from onset to resolution — in a person. A better understanding of SCAs natural history will offer insights into disease progression, markers of progression, and potentially…

The European Friedreich Ataxia Consortium for Translational Studies (EFACTS) group suggested specific outcome measures it found to be best suited to clinical trials testing possible treatments for Friedreich’s ataxia, and emphasized that studies looking at disease-modifying therapies need to run for at least two years. Jörg Schulz, a neurologist at RWTH…

Delivery of a small RNA molecule (microRNA), called let-7, directly into the brain rescued motor impairments in a mouse model of Machado-Joseph disease, researchers at Center for Neuroscience and Cell Biology in Coimbra, Portugal, reported at IARC 2017. Their study, “Let-7 activates autophagy and alleviates motor and neuropathological deficits in…

Regular and long-term aerobic exercise — in this case, running — slowed the start of Friedreich’s ataxia symptoms and prevented metabolic abnormalities in a mouse model of the disease, researchers report, calling their findings evidence that exercise offers “profound protection” if started at a young age. The oral presentation, “Voluntary running prevents onset of symptomatic…