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Increased levels of six small RNA molecules, or microRNAs, in the blood could be a specific genetic marker for Friedreich’s ataxia features and progression, researchers have found. The study was titled “Differentially Regulated Cell-Free MicroRNAs in the Plasma of Friedreich’s Ataxia Patients and Their Association with…

Researchers at Tufts University have developed a new, more powerful method of analyzing DNA sequencing to better identify and understand complex genomic rearrangements (CGRs), which are involved in many genetic disorders and cancers. CGRs can occur in diseases where expansion of repetitive DNA sequences is a core feature, such…

The Friedreich’s Ataxia Research Alliance (FARA) and the Critical Path Institute‘s (C-Path) Data Collaboration Center (DCC) will work together to create a database of clinical data for Friedreich’s ataxia (FA). Access to the large-scale database is expected to expedite research on the disease and clinical trials of therapies…

Researchers at the University of Wisconsin-Madison have developed a synthetic molecule that may help overcome the effects of the genetic defect that causes Friedreich’s ataxia. According to the study, “Synthetic transcription elongation factors license transcription across repressive chromatin,” the Syn-TEF1 molecule can bind to the mutated…

Australian researchers say a short-term rehabilitation program improved the health and well-being of a small group of patients with Friedreich’s ataxia (FA). The study, “Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?” appeared in the journal Clinical Rehabilitation. Researchers evaluated the effects…

Lack of frataxin protein in the heart muscles of mice with Friedreich’s ataxia leads to low levels of another protein that protects against heart damage, a study reports. The heart-protecting protein, Nrf2, regulates oxidative stress, an imbalance between the body’s production of potentially harmful free radicals and the antioxidant system’s ability to…

Sensory neurons derived from patients with Friedreich’s ataxia may be a valuable model for studying disease processes and test new treatments, researchers from the Université Libre de Bruxelles in Belgium argued. The neurons, grown from patients’ stem cells, capture many of the features researchers believe are key disease mechanisms…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Activating a protein known as Nrf2 might prevent the nerve cell disintegration that is a hallmark of Friedreich’s ataxia, a study indicates. The research, published in the International Journal of Molecular Sciences, involved cells grown in a lab. Its title is “Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic…

Researchers have found that asymptomatic dysfunction of mitochondrial activity in the part of the brain that regulates muscular activity, the cerebellum, may be a first step in the development of Friedreich’s ataxia (FA). A study, “Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the…