Monday, 30 August 2010 23:42
 News kindly supplied by Juan Carlos Baiges through Internaf and FAPG
August 30, 2010 - With all the significant scientific advancements presented, at the end of the symposium it was the people with Friedreich’s ataxia who gave the research meaning and value.
They were people like Holly LeBlanc, who for eight months traveled back and forth from Holland, MI, to USF to participate in a pilot clinical trial testing effects of the drug varenicline on neurological symptoms of Friedreich’s ataxia. She was back again August 26, with her mother and service dog Delsie, to attend the second annual scientific symposium hosted by the Friedreich’s Ataxia Research Alliance (FARA) and the USF Ataxia Research Center.
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Wednesday, 25 August 2010 00:00
 Reported by Gian Piero Sommaruga
Translation for BabelFAmily by Marion Clark
Milan, August 19, 2010 - Dear friends, I’d like to share with you a brief but rewarding experience I had recently thanks to a French friend, Henriette Champsaur, who has worked with BabelFAmily as a volunteer translator for nearly three years. Henriette invited me to spend several days at her family’s home in Gap, a small town in the beautiful region of the Hautes Alpes (High Alps) in southeastern France.
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Wednesday, 28 July 2010 22:12
News kindly supplied by Juliette Dieusaert, President of the French association AFAF. This report is written by Ataxia UK’s Research Officer, Alison Stevenson and approved by the EFACTS Steering Committee. Overview July 2010 - The European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) has been awarded a grant of just under six million Euros by the Seventh Framework Programme FP7 of the European Commission for research into Friedreich’s ataxia (FA).
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Monday, 30 August 2010 22:18
News kindly supplied by Goran Ilic through FAPG
University of Oxford - Department of Physiology, Anatomy and Genetics, Laboratory of Molecular Neurodegeneration
Sunday, 29 August 2010 - Applications are invited for a postdoctoral research assistant to join Dr Wade-Martins' Laboratory of Molecular Neurodegeneration to work on the development of novel molecular and genetic therapeutic strategies to better understand and ultimately treat the inherited neurological disease Friedreich's ataxia (FA). Dr Wade-Martins' laboratory is part of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS), a major new European Union-funded initiative to develop new therapies for FA which is funding the post.
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Friday, 20 August 2010 12:07
Translation for BabelFAmily: Marion Clark
This year the conference of Euro Ataxia, an international association of European ataxia organizations, will take place in Italy from October 1-3 at the Dante Club Hotel, located at Via Milazzo 81, Cervia (Ravenna). The hotel has handicapped-accessible rooms. PLEASE NOTE! Registration deadline is August 27, 2010. Along with the conference, there will be a Medical-Scientific Congress to share information on the current status of research on the principal forms of ataxia. The general program, subject to changes, is as follows:
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Thursday, 17 June 2010 17:33
 Report kindly prepared by Dr. Michele Lufino for BabelFAmily
Oxford, June 17, 2010
Many diseases are caused by an error, or mutation, in the DNA sequence of a gene which makes it non-functional. Mutated genes often fail to produce a protein product which may be essential for the correct functioning of a cell. Friedreich’s ataxia is a disease caused by a mutation in the Frataxin gene which results in very low levels of Frataxin, a protein essential for the cell.
Gene therapy is a relatively simple concept based on the idea that a disease caused by a mutated gene, leading to loss of an important protein, can be cured by introducing a healthy copy of the same gene. Once introduced in the cell, the healthy gene, or transgene, will provide the functioning protein and therefore convert a diseased cell into a healthy normal cell.
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