News

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…

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…

The National Ataxia Foundation (NAF) has presented a researcher from Belgium, Simona Donatello, with its Young Investigator Research Award for her work on molecular mTOR pathways affecting frataxin expression in Friedreich’s ataxia, possibly unearthing novel drug targets for the treatment of the disease. Dr. Donatello, with  the Universite Libre de Bruxelles, aims to…

Among the recently distributed National Ataxia Foundation (NAF) research awards, Ricardo Mouro Pinto, Ph.D., from Massachusetts General Hospital Harvard Medical School, received a Young Investigator Award for his work on DNA repair genes that might contribute to the expansion of the GAA repeat mutation in Friedreich’s ataxia. The…

The National Ataxia Foundation (NAF) is funding 20 ataxia research studies during 2016, including six projects in the United States, Italy, Canada, United Kingdom and Portugal that were provided for by the foundation’s Research Seed Money Awards. Among the six financially seeded studies, Dr. Paul Rosenberg, an associate professor,…