News

NAF Award Given to Researcher Investigating mTOR Pathways in 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…

Study to Explore Rare Gene Mutation Found in Spinocerebellar Ataxia

A study supported by a research grant from the National Ataxia Foundation (NAF) will explore the underlying mutation of the recently described spinocerebellar ataxia, type 41 (SCA41). In addition to producing new insights into spinocerebellar ataxia mechanisms, the study could contribute to improved diagnostics. Only one case with spinocerebellar ataxia and a…

NAF Supports Study Exploring Mitochondrial Defects in Skeletal Muscle in Cerebellar Ataxia 2

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. In a project focusing on autosomal recessive cerebellar ataxia 2, Pankaj Kumar Singh at the Institut Génétique Biologie Moléculaire Cellulaire, in France, explores how mitochondrial defects contribute to disease mechanisms in…

National Ataxia Foundation Awards Grant to Researcher Exploring Disease Signatures in Stem Cells

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. Magda Matos Santana at the Center for Neuroscience and Cell Biology, in Portugal, was among the recipients, recognized for her exploration of advanced models based on induced pluripotent stem cells (iPSC) of Machado-Joseph disease (MJD)…

Research Award Granted for Spinocerebellar Ataxia Study that May Lead to Novel Therapy

A study titled “Oligonucleotide-based Therapy in BAC-Mouse Models of SCA14” by researchers at the University of Washington in Seattle was recognized with a Pioneer SCA (spinocerebellar ataxia) Translational Research Award for its potential to develop a future SCA therapy. Spinocerebellar ataxia type 14 (SCA14) is a dominant ataxia that, unlike Friedreich’s ataxia, is not caused…