Friedreich’s ataxia (FA) is a severe disorder with autosomal recessive inheritance that is caused by the abnormal expansion of GAA repeat in intron 1 of FRDA gen. This alteration leads to a partial silencing of frataxin transcription, causing a multisystem disorder disease that includes neurological and non-neurological damage. Recent studies...
Lefil, Université Laval’s journal, published an article presenting the new advances of its researchers to improve the effectiveness of the CRISPR-Cas tool’s in the gene therapy. This research, in collaboration with the Dalhousie University, aims to develop a new strategy to increase the effectiveness of the CRISPR-Cas tool by modifying...
This research project is directed by Dr. Jacques P. Tremblay, Ph.D., professor in the Department of Molecular Medicine of Laval University in Quebec and main investigator at the Research Centre of Quebec City (CHUL). Duration of the project is two (2) years and its cost is $240,000. This project is...
By Guy D’Anjou, M.D. FRCPC Neurologist, Sainte-Justine Hospital Friedreich’s ataxia (FA) is one of the most frequent neurodegenerative diseases. Its clinical manifestations appear at a critical stage in the development of an individual and affect his autonomy and quality of life. A number of years ago it was discovered that...
Geneviève Bernard MD, MSc, FRCPC Isabelle Thiffault PhD Marie-Emmanuelle Dilenge MD, FRCPC Bernard Brais MD, PhD, M Phil Article Progress Report 2009-2010
Reader, Tomas, A.; Ase, Ariel, R.; Le-Marec, Nathalie; Lalonde, Robert, 2000: Effects of buspirone on brain indoleamines and catecholamines in wild-type mice and Lurcher mutants. European Journal of Pharmacology 398(1): 41-51 [Funded by CAFA] Abstract The effects of a chronic serotoninergic stimulation on brain monoamine levels and metabolism were studied...
Late Onset Cerebellar Ataxia: clinical & genetic characteristics Transcription of Isabelle Thiffault’s speech at the General Assembly of CAFA on November 4, 2007 Diaporama PowerPoint (in French) Hello, my name is Isabelle Thiffault, I have been doing a doctorate for three years and a half under the supervision of Dr....
