NEW-NAF Ataxia Research Studies Currently in Progress

The National Ataxia Foundation is pleased to announce that eight promising ataxia research studies from six different countries were awarded funding at the December 2008 NAF Board of Directors meeting. Also approved earlier in 2008 was an award to co-fund a clinical trial for various forms of SCA, which will begin in early 2009. These studies are in addition to two Kyle Bryant Translational Research awards that NAF co-funded and a Young Investigator award that was funded in 2008. All of these important research projects have been made possible through the generosity of NAF donors who contributed to the 2008 NAF Annual Ataxia Research Drive and those individuals and families who conducted fund raising events. We are grateful to our corporate and foundation friends and to all who made contributions to help support NAF’s important ataxia research efforts; you have made these research projects a reality and have given researchers the tools to help find more answers to stop ataxia. The National Ataxia Foundation is excited about these quality ataxia research studies and we are truly grateful to all of our donors. We invite you to read the summaries of these ataxia research projects:

• Alternative Splicing in SCA1, Smita Agrawal, PhD
• Investigate the DUB activity of Ataxin-3 and its effect on parkin stability and activity, Thomas, M. Durcan, PhD
• Spinocerebellar ataxia 2: cellular and molecular action of normal and mutant ataxin-2, Stefan Kindler, PhD
• Manipulation of frataxin expression in neurons, Filip Lim, PhD and Richard Wade-Martins, PhD
• The identification of putative drug targets for SCA3 using Drosophila melanogaster, Leeanne McGurk, PhD
• Cellular mechanisms underlying SCA1 pathogenesis, Puneet Opal, MD, PhD
• Spinocerebellar Ataxia: Three novel genetic forms, Shirley Rainier, PhD
• Preclinical Markers of Cardiomyopathy in Friedreich”s Ataxia, Subha V. Raman, M.D. and Roula al-Dahhak, M.D.
• Development of Methods to Determine the Pharmacodynamic Effect of HDAC Inhibitors on Frataxin Expression, James R. Rusche, PhD
• Role of small heat shock proteins (HspB) in the prevention of mutant ataxin-3 aggregation and toxicity, Carra Serena, PhD
• Looking for gross rearrangements of CACNA1A gene in Episodic Ataxia type 2 (EA2) patients by Comparative Genomic Hybridization (CGH) arrays, Liana Veneziano, PhD
• A Pilot, Randomized, Double-blind, Placebo-controlled Phase I Study to Determine the Safety and Tolerability of a compound in Treating Spinocerebellar Ataxia Types 3, Theresa A. Zesiewicz, MD