FRIEDREICH'S ATAXIA SPECIAL PROJECTS Award

Filip Lim, PhD

Richard Wade-Martins, PhD

Manipulation of frataxin expression in neurons

Although skin and blood samples from patients with inherited diseases have been extremely useful, laboratory studies and drug screening in certain cases, many ataxias such as Friedreich´s ataxia (FA), are principally neurological diseases, and the lack of human neuronal cell models may substantially delay the development of treatments which are effective in the nervous system. To remedy this situation we have focused our research on how to control levels of frataxin (the molecule which is reduced in FA), specifically in neurons. Our two groups in Madrid and Oxford have collaborated in FA research since 2004 and our present work consists of 3 closely linked projects: 1) developing FA gene therapy in animal models; 2) understanding how the normal and diseased frataxin gene is regulated in neurons; 3) novel human neuronal cell models for FA. These projects not only attempt to develop new therapeutic approaches such as gene therapy, but also serve to improve our understanding of FA and generate new research tools, which in turn will accelerate the identification of FA treatments, both by ourselves as well as by other research groups.