Source: FRIEDREICH'S ATAXIA SPECIAL PROJECTS AWARD Filip Lim, PhD Universidad Autonoma de Madrid, Madrid, Spain Richard Wade-Martins, PhD University of Oxford, United Kingdom 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.

The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

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Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.



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