Newsletter #54

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	Newsletter #54

The Institute of Myology wishes you all the best for 2016 Welcome to the first issue of our newsletter for the new year! Thanks to everyone who supported and participated in the numerous events of the past year, particularly the 29th annual Telethon, which raised over 80 million euros in the fight against neuromuscular diseases! Through your continued support and contribution, research advances for currently incurable diseases will progress. We hope you will enjoy this issue and would like to take this opportunity to wish you a safe and prosperous year 2016.
At the Institute
Telethon fundraising event 2015 : 80 251 183 euros. THANK YOU! At the end of a 30-hour TV show marathon, the Telethon counter displayed an extraordinary result of 80 251 183 euros. Read more
The Institute of Myology is seeking a Director of the Research Center in Myology /Research & Medical Director In close collaboration with the Chief Operating Officer, the Director of the Research Center in Myology /Research & Medical Director plan(s) and direct(s) a program of research grants, contracts, and collaborations. Read more
The French National Academy of Medicine decorates Professor Michel Fardeau Prof. Michel Fardeau was honoured for his outstanding career that has been entirely devoted to the biology and pathology of muscle. Read more
Our latest news
Muscular and extramuscular effects of rituximab in patients with refractory anti-synthetase syndrome Anti-synthetase syndrome (anti-SS) is frequently associated with myositis and interstitial lung disease (ILD). Here, the authors evaluated prospectively, in a multicenter, open-label, phase II study, the efficacy of rituximab on muscle and lung outcomes. Read more
Identification of a novel titinopathy In this study, the authors aimed to identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. Read more
Induced pluripotent stem cells functionally regenerate both cardiac and skeletal muscle Conditions such as muscular dystrophies (MDs) that affect both cardiac and skeletal muscles would benefit from therapeutic strategies that enable regeneration of both of these striated muscle types. Read more
International breaking news
Gene editing with CRISPR/Cas9 corrects genetic defect that triggers DMD The breakthrough genome editing tool known as CRISPR (clustered regularly interspaced short palindromic repeats) has been used by three separate research groups to treat postnatal DMD mice. Read more
Jagged 1: a new therapeutic target for DMD? The absence of dystrophin in muscle results in dysregulation of signaling pathways, which could be targets for disease therapy and drug discovery. Read more
First-in-human phase I/IIa trial of HLA-matched donor mesoangioblasts in DMD Intra-arterial transplantation of mesoangioblasts has been proven safe and partially efficacious in preclinical models of muscular dystrophy. Read more
Treatment with eteplirsen leads to a slower decline in disease progression over 3 years This paper describes the results of continuous, three-year treatment of Duchenne muscular dystrophy (DMD) patients with eteplirsen, 30 nucleotide-long phosphorodiamidate morpholino oligomer (PMO) designed to skip DMD exon 51 in patients with DMD. Read more
Duchenne muscular dystrophy A review of non-DMD muscle disorders identified by prior DMD screening programs Promise for future therapeutic targets to treat DMD Identification of a new long dystrophin isoform, Dp412e Treatment with eteplirsen leads to a slower decline in disease progression over 3 years Intraperitoneal injection of microencapsulated Sertoli cells restores muscle morphology and performance in dystrophic mice A phase I/IIa trial of intra-arterial infusions of HLA-matched donor MABs in DMD patients Protective effect of DMD genetic modifiers and dilated cardiomyopathy
Spinal muscular atrophy Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model Dominant spinal muscular atrophy is caused by mutations in BICD Novel non-neural dysfunctions and a wide phenotypic spectrum in spinal and bulbar muscular atrophy
Other neuromuscular diseases and basic research A quantitative diagnostic tool for genetically distinct hereditary neuropathies Fine-tuning the onset of myogenesis Prevalence of anti-HMGCR antibodies in a large sample of Chinese IIM patients Burden of disease in children with myotonic dystrophy
In brief
Rare Disease Day 2016 - 29 February - Join us in making the voice of rare diseases heard 29 Feb. 2016 marks the 9th international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities based on the slogan "Join us in making the voice of rare diseases heard". Read more
5th International Congress of Myology From 14th to 18th March, in the Lyon Conference Centre, 900 myology experts will present and challenge their latest findings not only in fundamental research but also in clinical science and therapeutics. Read more
The 2nd MYO-MRI Training School is now open for registration The 2nd MYO-MRI Training School will take place 15-17 June 2016 at the Institut de Myologie. The deadline for completing the Expression of Interest is Friday 29th January 2016. Read more
FDA rejects BioMarin Pharmaceutical's DMD drug The U.S. FDA indicated in a Complete Response Letter (CRL) to BioMarin Pharmaceutical that the review cycle for their New Drug Application (NDA) for drisapersen (Kyndrisa) to treat DMD is complete and that the application is not ready for approval in its present form as the standard of substantial evidence of effectiveness has not been met. Read more
Job opportunities A post-doctoral position is currently open at the University of Oslo, Norway, and a Principal Scientist & Team Leader position is available Stem Cell Biology Research and Development based in Cambridge, UK. Read more
Latest Publications from the Institute
Rocheteau, P.,Chatre, L.,Briand, D.,Mebarki, M.,Jouvion, G.,Bardon, J.,Crochemore, C.,Serrani, P.,Lecci, P. P.,Latil, M.,Matot, B.,Carlier, P. G.,Latronico, N.,Huchet, C.,Lafoux, A.,Sharshar, T.,Ricchetti, M.,Chretien, F. Sepsis induces long-term metabolic and mitochondrial muscle stem cell dysfunction amenable by mesenchymal stem cell therapy Nat Commun, 2015 ; 6 : 10145 Malfatti, E.,Chaves, M.,Bellance, R.,Viou, M. T.,Sarrazin, E.,Fardeau, M.,Romero, N. B. Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy Muscle Nerve, 2015 ; 52 (5) : 895-9 Allenbach, Y,Guiguet, M,Rigolet, A,Marie, I,Hachulla, E,Drouot, L,Jouen, F,Jacquot, S,Mariampillai, K,Musset, L,Grenier, P,Devilliers, H,Hij, A,Boyer, O,Herson, S,Benveniste, O Efficacy of Rituximab in Refractory Inflammatory Myopathies Associated with Anti- Synthetase Auto-Antibodies: an Open-Label, Phase II Trial PLoS ONE, 2015 ; (SP) :

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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 : Lisa Cukierman ; 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