Magdalena Kegel,  —

The severity of abnormal glucose regulation in people with Friedreich’s ataxia (FA) is linked to the extent of their genetic mutation, according to researchers at The Children’s Hospital of Philadelphia — a finding that might deepen understanding of disrupted glucose metabolism in FA patients. The genetic mutation underlying Friedreich’s ataxia is composed of repeats of…

In Friedreich’s ataxia, neurodegeneration related to dysfunctional iron metabolism has been described in the cerebellum – a brain region crucial for movement coordination. A new study, however, shows that disturbed iron metabolism with resulting tissue damage is far more widespread, and may serve as a biomarker of disease progression or…

Mutations in the FXN gene — responsible for Friedreich’s ataxia (FA) — mainly come in the form of repeats of three DNA bases, GAA, at the start of the gene. Cases where one gene copy holds a repeat mutation and the other copy contains another kind of mutation account for only 2 percent to 4 percent…

The Illinois Biotechnology Industry Organization (iBIO) recently announced that Kyle Bryant, founder and director of Ride Ataxia, Friedreich’s Ataxia Research Alliance, will be one of the keynote speakers for the 2016 iBIO Industry Exposition (iBIO, IndEx) at the Hilton Orrington in Evanston, Illinois, April 19-20. The meeting, whose theme is “Converge to…

Researchers have long known that — due to a genetic mutation —  the levels of the protein frataxin are decreased in Friedreich’s ataxia. Because of the neurological nature of the disease, the effects of the mutation have mainly been studied in neurons within the central nervous system, and not much is known about…