In patients with Friedreich’s ataxia, the severity of the mutation in the frataxin gene may become worse over time, according to a study published in the journal PLOS ONE. This insight has an impact on the understanding of the timing of symptom onset, and is crucial for the…
News
UCLA scientists have found that many early symptoms of Friedreich’s ataxia (FA) can be reversed, according to research they conducted in a new mouse model of the disease. Their study, titled “Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia,” was published in the journal…
An attorney in Sioux Falls, South Dakota, has taken up the challenge to raise $75,000 before Christmas to fund a Friedreich’s ataxia (FA) study project at Sanford Research, after his daughter was diagnosed with the neuromuscular condition. Brendtro started a crowdfunding campaign, The Finish Line Fund, to fund the…
Researchers have identified a new compound, CT51, that can potentially protect neurons from damage in severe neurodegenerative diseases, such as Friedreich’s ataxia. It can also be used to detect iron inside cells, which could be useful for monitoring these diseases. The study, “Development of an iron-selective antioxidant probe…
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…
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