News

In a recent study, entitled “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets” and published in the journal Bioanalysis, U.S. researchers show that platelets from Friedreich’s ataxia patients can be used as a biomarker of the disease and as a tool to investigate…

A recent study from researchers based in France described a new experimental system that can be used to identify drugs to treat Friedreich’s ataxia (FA). The research report, titled “A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency,” appeared in the journal Oxidative Medicine and…

Friedreich ataxia is an inherited neurodegenerative disease characterized by a progressive impairment of gait movements and sensory functions and an early age onset (< 25 years). This disease is caused by a mutation on the FXN gene (hyper-expansion of GAA trinucleotide repeats) leading to the lack of frataxin, a mitochondrial…

In a recent study entitled “FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia” a team of researchers reported that the mechanisms leading to silencing of the FXN gene, the underlying cause of Friedreich ataxia (FA), is not confined to tissues and cells reported to be affected…

In a research study titled “Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia“, published in the journal Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, researchers discovered that the region of chromosome 9 that contains the Frataxin…

In a recently published paper entitled “BNIP-H Recruits the Cholinergic Machinery to Neurite Terminals to Promote Acetylcholine Signaling and Neuritogenesis“, published in the Developmental Cell journal a team of international researchers identified an ataxia-related protein that regulates the growth of neurons by transporting key metabolic enzymes…

In a research study entitled “Frataxin levels in peripheral tissue in Friedreich ataxia“, published in the Annals of Clinical and Translational Neurology, researchers looked at the levels of frataxin in the buccal mucosa and blood of Friederich ataxia (FA) patients who were homozygous for the disease and in those…

A symposium focused on the rare genetic disease Friedreich’s ataxia, titled, “Understanding Energy for A Cure“, will gather some of the most prominent researchers and disease experts under one roof and help bridge the communication gap between patients and reliable sources of information and updates on FA. The event is hosted by the University…

Although the basis of Friedreich’s ataxia lies in a genome-wide mutation in the frataxin gene that encodes the frataxin protein, not all tissues are affected by the disease. Some tissues function adequately, while others such as neuronal and cardiac tissues suffer from degenerated ability to function. Researchers have found that…

The Muscular Dystrophy Association (MDA), together with the Friedreich’s Ataxia Research Alliance (FARA), have announced a new strategic partnership geared towards discovering better ways to address Friedreich’s Ataxia (FA) through advancing research, therapeutic development and clinical care. This alliance further strengthens the former’s dedication to forming partnerships both with for- and not-for-profit…