Gene therapy project in Friedreich’s ataxia


Friedreich’s ataxia (FA) is an inherited condition caused by a mutation in the frataxin gene. This leads to reduced levels of an essential protein called frataxin within cells in the body. Nerves in certain regions of the brain and spinal cord, heart muscle cells and pancreatic cells appear to be particularly susceptible to damage because of this reduction in frataxin protein.

One potential exciting treatment for FA is gene therapy, whereby extra frataxin gene copies that are not mutated are artificially introduced into the body with the help of inactivated viruses as delivery vehicles. Drs Themis and Pook (Brunel University London, UK) are now seeking funds from Ataxia UK for such a study in which they aim to determine the safety and efficacy of delivering the frataxin gene using lentiviruses in FA. This follows on from a previous project funded by Ataxia UK jointly with two other charities. The project aims to complete the work by delivering the frataxin gene in a mouse model of FA and seeing if they can treat the mice effectively. This information is important to investigate the potential for developing gene therapy in FA patients in the future.

Please donate to help us fund this Friedreich’s ataxia gene therapy project. Research staff and infrastructure are already in place so they only need funds for laboratory consumables. If any additional funds are received over the target they will be directed to Friedreich’s ataxia research.