Promising Ataxia research receives funding for 2009.

The response to the National Ataxia Foundation's invitation for ataxia investigators to submit research applications was the greatest it has been in NAF's history since the Foundation began providing research funding.

NAF's four grant programs for 2009 included: Research, Young Investigator, Friedreich's Ataxia Special Projects and Fellowship awards. Each of these programs has a different dollar amount or a specific focus but all have the same requirement: the research must be for new and innovative studies that are relevant to the cause, pathogenesis or treatment of ataxia, both hereditary and sporadic.

When all four categories are combined, a total of 49 well-written and thorough research projects were submitted and reviewed utilizing 33 experts in ataxia to read and score the applications. The reviewers' scores and comments were then submitted to a research review committee to make recommendations to the NAF Board of Directors for their final approval for funding.

There were many excellent projects submitted and only because of the limitations in funds were some not granted funding. However, the National Ataxia Foundation is proud to announce its most recent funding of nine excellent projects for FY2009. Some grants are for two years so those projects will continue to receive funds during 2010. It is exciting to note that six different countries are represented, nine different types of ataxia are being studied and one project has the potential to identify a new ataxia gene.

It is because of the generous donations of individuals and private foundations, as well as family fundraisers, that NAF funded the following research:

Research Grant Awards

Stefan Kindler, PhD

University Medical Center, Hamburg, Germany

Spinocerebellar Ataxia 2: Cellular and Molecular Action of Normal and Mutant Ataxin-2

Ataxia, an unsteady and clumsy motion of the limbs and torso, is a common disability accompanied by severe loss of quality of life and often premature death. Different types of inherited spinocerebellar ataxias (SCAs) are caused by mutations in distinct genes. In several diverse forms of SCA, these mutations lead to expansions of so-called polyglutamine (polyQ) stretches in the corresponding gene products, termed proteins.

Proteins are organic compounds composed of a chain of different amino acids, including one called glutamine. They are the main molecular working units of cells and participate in practically every cellular process often via regulated interactions between particular proteins. Each protein possesses a precise three dimensional structure that enables it to fulfill its specific cellular function. Most structural alterations thus lead to functional deficits.

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Spinocerebellar ataxia type 2 (SCA2) is caused by a polyQ stretch expansion in a protein named ataxin-2. This …