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…
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Su Yang, Ph.D., from Emory University in Atlanta is one of the National Ataxia Foundation postdoctoral fellowship recipients of 2016 for the project titled “Developing the MANF-based therapeutic approach for Spinocerebellar Ataxia 17.” Spinocerebellar Ataxia 17 (SCA17) is an inherited condition characterized by a gradual loss of…
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…
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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)…
Percy Tumbale, of the National Institute of Environmental Health Sciences, National Institutes of Health recently received a Young Investigator Research Award from the National Ataxia Foundation (NAF), to cover her ongoing research on aprataxin mutations in ataxia oculomotor apraxia 1 (AOA1). Ataxia generally refers to the muscle coordination loss…
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…
Cambridge, Massachusetts-based clinical-stage gene therapy company Voyager Therapeutics will host an R&D Day from 8:30 to 11 a.m. Eastern Time on Friday, April 29, in New York City. Voyager specializes in the development of treatments for fatal and debilitating diseases of the central nervous system (CNS) such as…
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…
Metabolic analysis of platelets from patients with Friedreich’s ataxia (FA), using liquid chromatography–mass spectrometry (LC-MS), revealed metabolic alterations that may be the focus of future therapeutics, according to a study, “Stable isotopes and LC–MS for monitoring metabolic disturbances in Friedreich’s ataxia platelets,” published in the Bioanalysis journal. FA is a genetic disease caused…
A recent study led by several Australian institutions found that excessive muscle contraction, called spasticity, appears early in patients with Friedreich’s ataxia (FA). To optimize the function of people with FA, particular management of spasticity and reduced muscle length should be considered at an early stage of the disease. These findings,…
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