Canadians wishing to contribute to this project and receive a receipt for tax purposes can do so by CanadaHelps.org

American citizens can make a donation through the crowdfunding site CONSANO and receive a tax receipt valid in the USA.

Friedreich Ataxia is due to an expansion in the number of triplets of nucleotides (GAA) in the gene sequence which codes for the production of frataxin protein. In a healthy person there are 8-34 GAA repeats (GAA-GAA-GAA-GAA-GAA ……). However, for most patients, there are several hundreds GAA repeats. This mutation of frataxin gene leads to a reduction of frataxin protein in cells of the patients. The decrease of the protein frataxin leads to cell death which leads to neurological and heart problems.

The therapy on which our research group is currently working aims to remove this long GAA repeat. This is done by cutting the frataxin gene before and after the repetition. This cutting of a gene can be carried out by specifically designed proteins (called endonucleases) that can bind to parts of the gene located before and after the long GAA repeat. The deletion of the long repeat is expected to produce a normal level of frataxin protein.

Your donations will allow experiments to be made in a cell culture of a Friedreich patient and in a mouse model of Friedreich’s ataxia. This will permit to verify whether this treatment will not only restore the normal level of frataxin protein in a live mouse but also prevent or reverse the existing symptoms. Such results would permit to test this therapeutic approach in patients in a clinical trial.

American citizens can make a donation through the crowdfunding site CONSANO and receive a tax receipt valid in the USA.

Canadians wishing to contribute to this project and receive a receipt for tax purposes can do so directly on this page.

Ataxia Canada will contribute equally to the amount collected.