As the most prevalent form of ataxia, Friedreich’s ataxia represents a major focus for research in the field of understanding disease mechanisms. Rising to the demand is researcher Simona Donatello, PhD at Universite Libre de Bruxelles in Brussels, Begium. Dr. Donatello was recognized by the National Ataxia Foundation…
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Joining Friedreich’s Ataxia in the list of ataxias is spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease. This disease is caused by mutations in the gene encoding protein ataxin-3 (ATXN3), unlike Friedreich’s ataxia, which is caused by a mutation in the gene encoding frataxin protein (FXN). Similar…
The National Ataxia Foundation (NAF) recently announced that 23 promising studies focusing on ataxia were awarded funding. These awards are crucial to supporting research projects that sustain cutting-edge ataxia research. One of the projects granted a “Seed…
The National Ataxia Foundation (NAF) has announced that Dr. Susan Perlman was recently awarded a Research Grant to build a web-based National Ataxia Database (NAD). Susan Perlman is a professor in the Department of Neurology at the David Geffen School of Medicine at UCLA…
A study led Dr. Meritxell Teixidó and Prof. Ernest Giralt from the Institute for Research in Biomedicine, Barcelona, entitled “Applying the Retro-Enantio Approach to Obtain a Peptide Capable of Overcoming the Blood–Brain Barrier” was published in the Angewandte Chemie. The study highlighted the…
In a recent study entitled “Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich’s Ataxia” a team of researchers described a new system that allows the identification of novel molecular pathways responsible for Friedreich’s Ataxia, as well as potential new…
A study published in The Journal of Biological Chemistry provides a detailed analysis on iron-sulfur cluster biogenesis in mammalian mitochondria based on a novel experimental system. The study is entitled “Fe – S cluster biogenesis in isolated mammalian mitochondria: coordinated use of per sulfide sulfur…
Earning the Pioneer SCA Translational Research Award from the National Ataxia Foundation, Thorsten Schmidt, PhD at University of Tubingen in Germany is developing a novel treatment for spinocerebellar ataxia type 3 (SCA3). His winning research, “Targeting the Intracellular Localization of Ataxin-3…
The National Ataxia Foundation has proudly announced that 23 promising studies regarding ataxia being conducted in the United States, United Kingdom, Belgium, Portugal, Mexico and Germany were awarded funding at the December 2014 NAF Board of Directors meeting for fiscal year 2015. Between these 23 new studies that will receive financial…
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Friedreich’s Ataxia Patients’ Clinical Characteristics Studies To Improve Translational Research
In a recent study entitled “Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data,” researchers describe the biological and clinical characteristics of patients with Friedreich’s Ataxia as a model of clinical outcomes to be…
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