Newsletter #57

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	Newsletter #57

Welcome to the summer edition of our Newsletter. This issue features an interview with France Piétri-Rouxel, a researcher at the Myology Centre for Research who with her team has recently demonstrated that a minimum level of 40% of dystrophy is necessary both to recover strength and to improve muscle general condition. Preparations are well underway for the 30th edition of the Telethon, which will take place over the weekend of December 2nd and 3rd 2016. Four families are in the spotlight this year but we mustn’t forget the other families, the countless volunteers and researchers, all joined together in the same fight against disease: they are Generation Telethon! We would like to wish all of our readers a safe and pleasant summer holiday!
At the Institute
Antoine Muchir, a researcher from the Institute involved in Telethon 2016 Antoine Muchir works at the Myology Centre for Research in Gisele Bonne’s team and will represent the Institute of Myology during the event. Read more
Summer School of Myology 2016 The 19th Summer School of Myology took place at the Institue of Myology from 23rd June to 1st July. Fifty three students completed courses, nearly as much as our record numbers last year. Read more
Our latest news
From 40% of dystrophin expression, muscle condition is improved Interview with France Piétri-Rouxel who showed with her team that a minimum level of 40% of dystrophin is necessary both to recover strength and to improve muscle general condition. Read more
DMD: efficacy of gene augmentation therapy through a pre-treatment with antisense oligonucleotides The “preparation” of dystrophic muscles to the injection of AAV-vectors increases to ten times the efficacy of the treatment in the muscles of mice models of the disease. Read more
Feasibility of ActiMyo® in recording movements of non-ambulant DMD patients ActiMyo® is an innovative device that uses magneto-inertial sensors to record angular velocities and linear accelerations that can be used over long periods of time in the home environment. Read more
Lower-trunk accelerometry to characterize gait pattern abnormalities in patients with DM1 Gait analysis using lower-trunk accelerometry was performed at self-selected walking pace. Read more
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy In DMD, progressive loss of respiratory function leads to restrictive pulmonary disease and places patients at significant risk for severe respiratory complications. Read more
International breaking news
Circulating miRNAs: potential biomarkers in muscular dystrophies In muscular dystrophies, the dysregulation of miRNAs was initially observed in muscle biopsy and later extended to plasma samples. Read more
Biomarin withdraws EU market authorization application for drisapersen but is not abandoning research into DMD BioMarin will continue to explore the development of next-generation oligonucleotides for the treatment of DMD. Read more
Identification of a novel CMS gene, MYO9A A cohort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in order to identify genetic causation. Read more
Duchenne and Becker muscular dystrophies Use of hip kinetics to identify functional muscle strength in young boys with Duchenne muscular dystrophy From invasive to non-invasive ventilation in patients with Duchenne muscular dystrophy Motor function measure and quantitative thigh muscle MRI correlate with clinical function in Becker muscular dystrophy Weak correlation between echocardiography-based LV function and cardiac MRI in DMD
Spinal muscular atrophy Loganin: a potential complementary candidate for treatment of neuromuscular diseases? The economic burden of spinal muscular atrophy
Mytonic dystrophy Genetically-treated iPS cells for development of autologous stem cell therapy for DM1 Absence of excess prevelance of DM2 in patients with suspected FMS
Facioscapulohumeral muscular dystrophy A human pluripotent stem cell model of FSHD-affected skeletal muscles A novel clinical tool to classify FSHD phenotypes
Other neuromuscular diseases and basic research Identifying a dominantly inherited pattern of calpainopathy Use of quantitative scores to differentiate demyelinating inflammatory and hereditary neuropathies Misregulation of mTOR signaling in dystrophic dystroglycanopathy skeletal muscle Phenotypic features of patients with GMPPB-CMS Next Generation Sequencing: a first-line tool for genetic evaluation of CMD? Simplifying the classification of neurogenetic diseases
In brief
The Faces of Telethon 2016 Leo, Mandine, Elena, Matthieu… they come from different horizons, with their one stories, but they all have one goal: fighting the disease which affects them. They are Generation Telethon. Read more
1st Latin American Society of Neuromuscular Diseases (SOLANE) Symposium to be held on September 9–10 in Buenos Aires, Argentina SOLANE aims to become an international Organization bringing together leading specialists, patient organizations and industry representatives to ensure the best practice in neuromuscular diseases treatment. Read more
Worldwide collaboration for orphan drug designation The growing awareness of the need for pharmaceutical products to treat rare diseases led to the enactment of rare diseases legislation in the United States the European Union and Japan. Read more
Job opportunities A Post-Doctoral Position is available in Epigenetics and Cell Differentiation at the University Paris Diderot, Paris, France. The Department of Molecular Cell Biology of Leiden University Medical Center (LUMC) is looking for a Postdoc to work on a 3-year research project. Read more

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Legal This is the newsletter of current medical science from the Institute of Myology. It is published every two months. Chief Editor: Gaëlle Barrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Nathalie Haslin. Do you have any questions? Would you like to share some news? Please contact us. © 2015 - AFM - Institut de Myologie. ISSN 1772-9866