Production of frataxin protein in most Friedreich ataxia patients is blocked by gene mutations that prevent the reading (transcription) of the gene, but new research shows that the obstruction can be overcome using a drug to block HDAC (histone deacetylator) enzymes involved in the process and that the effect of the…
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The Friedreich’s Ataxia Research Alliance (FARA) joined the California NAACP and other patient advocacy groups to listen to opinions and concerns about SB 1010 — a controversial California state bill that could potentially impact Friedreich’s ataxia (FA) care in the state. Those opposed to the bill, sponsored by state Sen. Ed Hernandez, claim it “prioritizes…
Heart tissue from deceased patients with Friedreich’s ataxia was found to have quite low levels of copper, according to a recent study. Its authors suggest that copper supplements may benefit people with FA, although the link between copper levels and cardiomyopathy needs further research. The study, “Abundance and Significance of Iron, Zinc, Copper,…
People with Friedreich ataxia have lower than usual levels of cell-free mitochondrial DNA circulating in the bloodstream, but higher levels of nuclear DNA, a finding that might result in new biomarkers to monitor these patients in clinical trials. Research in Friedreich ataxia would benefit from the existence of a non-invasive biomarker of…
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Jupiter Orphan Therapeutics Appoints David Sinclair as Co-Chair of Its Scientific Advisory Board
Jupiter Orphan Therapeutics Inc. (JOT) announced that David Sinclair, a Harvard Medical School professor with an interest in the dietary supplement resveratrol and its potential benefit in treating diseases such as Friedreich’s ataxia (FA), has joined the company as the co-chairman of its scientific advisory board. Professor…
Although Friedreich’s ataxia is mainly associated with the degeneration of neurons, a recent report shows that glial satellite cells in the spinal cord are also affected by the frataxin gene mutation. This appears to be a process independent of neuronal cell death, and likely contributes to disease manifestations in Friedreich’s…
Scientists at University College London have, for the first time, described the full sequence of faulty mitochondrial processes in a Friedreich’s ataxia mouse model. Findings show that dysfunctional mitochondria directly contribute to cell death through lipid peroxidation in disease-affected neurons – a degradation of cellular lipids that if prevented,…
The U.S. Food and Drug Administration’s (FDA) Office of Orphan Products Development recently granted orphan drug designation to Retrotope‘s stabilized fatty acid drug (RT001) for the treatment of Friedreich’s taxia (FA). The FDA designation follows a statement from the company that RT001 was well tolerated by patients with FA without…
The National Ataxia Foundation (NAF) announced that 20 promising ataxia studies were awarded funding for 2016, and include four Young Investigator SCA Research Awards that provide $50,000, one-year grants to young investigators who are pursuing a career in spinocerebellar ataxia (SCA) research. Among the Young Investigator project winners, Giorgio Grasseli, a post-doctoral student…
Global Genes, a leading rare genetic disease advocacy organization, has just announced the winners of its inaugural RARE Patient Impact Grant Program, an initiative first launched at the 2015 Rare Tribute to Champions of Hope. Included in the awardees is the Friedreich’s ataxia leading advocacy organization, Friedreich’s Ataxia…
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