NEW-NAF Ataxia Research Studies Currently in Progress

The National Ataxia Foundation is pleased to announce that 10 promising ataxia research studies were awarded funding at the December 2009 NAF Board of Directors meeting. Also approved earlier in 2009 was an award to fund a patient registry for various forms of ataxia, which will be available in early 2010 and a Biorepository for ataxia research. These studies are in addition to two Kyle Bryant Translational Research awards that NAF co-funded in 2009. All 14 of these important research projects have been made possible through the generosity of NAF donors who contributed to the 2009 NAF Annual Ataxia Research Drive, our corporate and foundation friends, the Michael and Patricia Clementz Family Endowment Fund for SCA 3 Research, NAF chapters and support groups, individual and group donations, and those individuals and families who conducted fund raising events. 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:

• New initiative for clinical research on ataxia, S. H. Subramony, MD
• Optimizing delivery of frataxin using cell penetrant peptides, Ronald Mark Payne, MD
• Screening for mitofunctional Friedreich’s Ataxia therapeutics, Gino A. Cortopassi , PhD
• Molecular function of senataxin protein, defective in ataxia oculomotor apraxia type 2 (AOA2), in regulation of human gene expression, Natalia Gromak, PhD
• Cerebrospinal fluid biomarkers in spinocerebellar ataxia.  Christopher Gomez, MD, PhD
• Identifying common genetic modifiers of Spinocerebellar ataxias (SCAs) using Drosophila model Keyi Zhu, MD, PhD
• Identification of compounds that modulate ataxin-3 aggregation and neurological dysfunction in a C. elegans model of Machado-Joseph disease, Patrícia Maciel, PhD
• Modulation of autophagy as a novel therapeutic strategy for Machado-Joseph disease, Luís Pereira de Almeida, PhD
• Understanding the role of altered physiology in the pathogenesis of SCA3, Vikram G. Shakkottai, MD, PhD

• 

• Understanding the ubiquitin code in disease: from protein function to protein aggregation, Sandra de Macedo Ribeiro, PhD
• Molecular Mechanisms of Beta 3 Spectrin in Spinocerebellar Ataxia 5 (SCA5), Michael Stankewich, PhD
• Regulation of neuronal genes by the alpha1A C terminus of Calcium channel and disruption in SCA6, Xiaofei Du, MD
• Deconstructing the transcriptional dysregulation of Spinocerebellar ataxia type 7 retinal degeneration, Paula Ladd, PhD
• Biorepository (tissue bank) of specimens for ataxia research, Arnulf H. Koeppen, MD