Abstract: The present invention provides gene therapies for the treatment of Friedreich's ataxia. Specifically, the present invention provides a nucleic acid, cloning vector and transfer vector for the production of an adeno-associated virus (AAV) vector. The nucleic acid comprises (i) a nucleic acid sequence encoding frataxin, (ii) a phospho-glycerate-kinase (PGK) promoter, and (iii) a woodchuck hepatitis virus posttranscriptional regulatory element (WPRE). The present invention also provides a pharmaceutical composition which comprises the AAV vector or nucleic acid. Also, the AAV vector, nucleic acid or pharmaceutical composition can be used as a medicament, specifically as a medicament for the treatment of Friedreich's ataxia.

Abstract: The present invention provides gene therapies for the treatment of Friedreich's ataxia. Specifically, the present invention provides a nucleic acid, cloning vector and transfer vector for the production of an adeno-associated virus (AAV) vector. The nucleic acid comprises (i) a nucleic acid sequence encoding frataxin, (ii) a phospho-glycerate-kinase (PGK) promoter, and (iii) a woodchuck hepatitis virus posttranscriptional regulatory element (WPRE). The present invention also provides a pharmaceutical composition which comprises the AAV vector or nucleic acid. Also, the AAV vector, nucleic acid or pharmaceutical composition can be used as a medicament, specifically as a medicament for the treatment of Friedreich's ataxia.

Abstract: The invention features methods for decreasing cell toxicity or death, and for decreasing polyglutamine aggregates and other amyloidogenic aggregates. The invention also features methods for treating a subject with a condition in which expanded polyglutamine repeats or amyloidogenic aggregates are present.

Abstract: The invention provides a method of screening for an inhibitor of cell death, comprising an assay comprising the steps of incubating a first protein comprising a caspase, a second protein comprising a polyglutamine stretch and a candidate inhibitor of cell death under conditions sufficient to permit the formation of a complex comprising the first protein and the second protein, and performing a detection step to detect the formation of a complex, wherein a reduction in the formation of a complex in comparison to that observed when the first and second proteins are incubated in the absence of the candidate inhibitor indicates that the candidate inhibitor is an inhibitor of cell death. A further aspect of the invention is a kit with which to perform this method.