{"id":14666,"date":"2015-12-16T12:55:00","date_gmt":"2015-12-16T17:55:00","guid":{"rendered":"https:\/\/clone.arsacs.com\/?p=14666"},"modified":"2021-07-16T13:00:03","modified_gmt":"2021-07-16T17:00:03","slug":"recherche-2015","status":"publish","type":"post","link":"https:\/\/arsacs.com\/fr\/recherche-2015\/","title":{"rendered":"Recherche 2015"},"content":{"rendered":"\n<p><strong>\u201cThe use of KO and KI mice, a human fibroblast model and Sacs mini-gene in the search of a treatment for ARSACS\u201d<\/strong><br>Dr. Bernard Brais Co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital.<\/p>\n\n\n\n<p><strong>\u201cRole of neurofilaments and mitochondria in the pathogenic cascade of ARSACS: Relevant biomarkers for therapeutic development\u201d<\/strong><br>Dr.Heather Durham, McGill Department of Neurology<\/p>\n\n\n\n<p><strong>\u201cModelling ARSACS using induced pluripotent stem cell derived neurons with isogenic controls\u201d<\/strong><br>Dr. Paul Chapple.<\/p>\n\n\n\n<p><strong>\u201cNew emerging team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies\u201d<\/strong><br>Dr.Cynthia Gagnon.<\/p>\n\n\n\n<p><strong>\u201cA randomised delayed entry trial of intensive home-based speech therapy in ARSACS\u201d<\/strong><br>Matthis Synofzik.<\/p>\n\n\n\n<p>Compte tenu du succ\u00e8s de l\u2019application IRB, l\u2019\u00e9quipe de recherche peut maintenant effectuer des \u00e9tudes de dysphagie syst\u00e9matiques sur l\u2019ARSACS. Les chercheurs ont d\u00e9j\u00e0 traduit, mis en place et valid\u00e9 les premiers r\u00e9sultats de dysarthrie et de dysphagie . Ils vont commencer en mars le programme de traitement de la parole en premier avec des patients Friedreich et plus tard avec des patients ARSACS. En parall\u00e8le, l\u2019\u00e9quipe de recherche va commencer la caract\u00e9risation du discours syst\u00e9matique et de la dysphagie de l\u2019ARSACS.<\/p>\n\n\n\n<p>Contact: Dr. Matthis Synofzik, M.A.,Centre for Neurology and Hertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str. 3, D-72076 T\u00fcbingen<br>Tel: 07071\/29-82060 * Email: matthis.synofzik@uni-tuebingen.de * web:&nbsp;<a href=\"http:\/\/www.hih-tuebingen.de\/klinische-neurogenetik\/mitarbeiter\/\" target=\"_blank\" rel=\"noreferrer noopener\">http:\/\/www.hih-tuebingen.de\/klinische-neurogenetik\/mitarbeiter\/<\/a><\/p>\n\n\n\n<p><strong>\u201cDesign and Validation of a Custom Amplicon Panel for the Diagnosis of Spastic ARSACS and other ataxias\u201d<\/strong><br>Dr. Paola Giunti, ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.<\/p>\n\n\n\n<p>Les travaux de recherche du Dre Giunti serviront \u00e0 diagnostiquer l\u2019ARSACS de fa\u00e7on plus efficace et \u00e0 moindre co\u00fbt. L\u2019ARSACS a \u00e9t\u00e9 d\u00e9crite en Europe, Afrique du Nord, Turquie, Japon et au Br\u00e9sil. \u00c0 ce jour, les tests g\u00e9n\u00e9tiques pour identifier les patients ARSACS sont dispendieux, prennent du temps et, par cons\u00e9quent ne sont offerts que dans des centres sp\u00e9cialis\u00e9s ou de recherche au Royaume-Uni. Il existe donc un besoin pressant pour un test de diagnostic rapide, moins cher et plus disponible.<\/p>\n\n\n\n<p>Dre Giunti et d\u2019autres groupes ont prouv\u00e9 que la couche de fibres nerveuses r\u00e9tiniennes (CFNR), telle que mesur\u00e9e par tomographie en coh\u00e9rence optique (OCT) est \u00e9paissie dans le cas de l\u2019ARSACS, contrairement \u00e0 la plupart des autres maladies neurod\u00e9g\u00e9n\u00e9ratives dont la CFNR est normale ou amincie. Son projet est de d\u00e9velopper un panel d\u2019amplicon personnalis\u00e9 pour les ataxies spastiques qui permettra le diagnostic de l\u2019 ARSACS et pourra \u00eatre utilis\u00e9 pour un diagnostic plus g\u00e9n\u00e9ral dans les cas d\u2019ataxie spastique. Il est pr\u00e9vu que, en cas de succ\u00e8s de cette validation, cela deviendra une proc\u00e9dure de routine dans le laboratoire de neurog\u00e9n\u00e9tique de l\u2019UCL \/ UCLH. Elle va alors utiliser le panel d\u2019 amplicon pour \u00e9valuer des patients atteints de l\u2019ataxie qui ont d\u00e9j\u00e0 subi un OCT scanning. Cela permettra \u00e0 son \u00e9quipe d\u2019\u00e9valuer la sensibilit\u00e9 et la sp\u00e9cificit\u00e9 de l\u2019OCT dans le diagnostic de l\u2019ARSACS.<\/p>\n\n\n\n<p>Contact: Dr. Paola Giunti, Principal Clinical Research Associate,Honorary Consultant, Department of Molecular Neuroscience,UCL, Institute of Neurology,National Hospital for Neurology and Neurosurgery, Queen Square,London WC1N 3 BG,UK<br>Tel: +44 845 155 5000 sec. ext 723100 dir. ext 723153 * Fax: +44 207 2785616 * Email: p.giunti@ucl.ac.uk<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u201cThe use of KO and KI mice, a human fibroblast model and Sacs mini-gene in the search of a treatment for ARSACS\u201dDr. Bernard Brais Co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital. \u201cRole of neurofilaments and mitochondria in the pathogenic cascade of ARSACS: Relevant biomarkers for therapeutic development\u201dDr.Heather Durham, McGill Department [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","inline_featured_image":false,"footnotes":""},"categories":[19],"tags":[],"class_list":["post-14666","post","type-post","status-publish","format-standard","hentry","category-recherche-2015"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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