GENEFA, Platform for a Friedreich's Ataxia cure - Research on gene therapy, was constituted in March 2013 by a group of FA affected people (patients, relatives and friends) in order to support researching for a Friedreich's ataxia cure, in a non-for-profit and volunteer collaborative way.
Friedreich's ataxia is a serious disease that develops in childhood or adolescence and affects about 2 out of every 50,000 people. It is caused by a single defective gene, FXN gene, which causes a significant decrease of the frataxin protein, which leads to an early and progressive neuronal degeneration.
Nowadays, thanks to the efforts of bright and committed scientists worldwide, preliminary research for a cure is at an advanced stage and has already turned into reality a corrected and functional gene. At this time, the current problems left to be solved are those of blood-brain barrier crossing and also improving of corrected gene’s diffusion so as to replace the erroneous gene functions, thus correcting the cause of this disease.
Continued funding cuts in scientific research make impossible to continue and to progress projects in this area, therefore we face the fact that they can be indefinitely adjourned.
Given the scientific possibility of curing FA if economic resources are available, GENEFA is born in order to raise funds for covering the costs of the following research project:
The members of this platform make a financial and organizing effort towards initiatives to fund this research project, but because of the rare nature of this disease, we are still few people for supporting this campaign and therefore we do appreciate all of your cooperation.