Newsletter #55

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	Newsletter #55

The 5th international congress of myology, Myology 2016, organised by AFM-Téléthon, was held from March 14th to 18th. Throughout this week, 982 international experts on muscle and its diseases have gathered at the Palais des Congrès in Lyon. This event has been the highlight of international myology in 2016, 30 years after the discovery of the gene involved in Duchenne muscular dystrophy, announced in 1986 at the Tours congress, also organized by AFM-Téléthon. The final total of last Telethon has also been released this eventful month. With a final total of 93,850,778€, Telethon 2015 was an overwhelming success! Despite the tense atmosphere following the horrifying terrorist attacks in Paris, this excellent result once again highlights the nation’s continued commitment in the fight against devastating neuromuscular diseases. THANK-YOU! The next Telethon will mark its 30th anniversary and will take place on 2-3 December 2016.
At the Institute
Myology 2016 The Institute of Myology has been well represented in the congress Myology 2016: many posters and oral communications, a prize for the best talk at the "Young Investigators Symposium" and information stands. Read more
Summer School of Myology (June 23rd-July 1st): registration is still open You can still register for our Summer School of Myology (10-day course, a series of lectures and interactive workshops in English covering most aspects of Myology) Read more
Our latest news
Gender influences DM1 clinical profiles and severity This nationwide observational study, aimed to study gender impact on DM1 phenotype and severity in 1409 adult DM1 patients (>18y). Read more
NMR and functional assessments of upper limbs in DMD This study aimed to explore the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy. Read more
International breaking news
Positive results with nusinersen in children with SMA Nusinersen (previously ISIS-SMNRx) is an antisense oligonucleotide designed to bind to the SMN2 pre-mRNA and promote inclusion of exon 7. Read more
Corticosteroid treatment of DMD: summary of practice guideline for clinicians This paper provides a summary of the 2005 American Academy of Neurology (AAN) guideline update, “Corticosteroid treatment of Duchenne muscular dystrophy.” Read more
Duchenne and Becker muscular dystrophies A novel test for NIPD of DMD/BMD by relative haplotype dosage CRISPR-induced deletion (CinDel): a new therapeutic approach to restore the dystrophin gene reading frame? Increasing the therapeutic potential of DMD with autologous stem cells expressing a novel functional dystrophin Largest CRISPR/Cas9-mediated deletion relevant to 60% of DMD mutations
Congenital myopathies KLHL40-related nemaline myopathy and response to acetylcholinesterase inhibitors Identification of a novel form of recessive SCN4A-related congenital myopathy
Other neuromuscular diseases and basic research Prevalence of HSMNR in the Czech Republic Reviewing the epidemiology of the muscular dystrophies Co-administration of P-glycoprotein inhibitors with bortezomib improves therapeutic access to the CNS Distal myopathy and motor neuropathy due to mutations in HSPB8 A mutation in GYG1 causes late-onset polyglucosan myopathy Use of induced pluripotent stem cells as an in vitro model for FOP A new gene silencing approach for FSHD Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials Next-generation sequencing to diagnose muscle disorders Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D DGAT2 mutations: a novel cause of an autosomal dominant axonal CMT2 neuropathy Experiences of caregivers for individuals with DM1 and dysphagia Diaphragm pacing: a paradigm shift in the management of respiratory insufficiency for Pompe disease? Clinical trials of dichlorphenamide in periodic paralysis Biomarkers for SMA progression identified Role of activating signal cointegrator 1 complex in the development of the peripheral nervous system
In brief
29 February 2016 - Rare Diseases Day - "Patient Voice - Join us in making the voice of rare diseases heard" Rare Disease Day 2016 was a great success! 85 countries including 28 EU countries, and, for the first time, Andorra, Aruba, Indonesia, Libya, Mauritius, Moldova, Tanzania, Tunisia, Uganda and Zimbabwe joined the event. Read more
Workshop registration: 'Making outcomes work' The workshop will focus on ongoing activities and advances in outcome measure development, focusing in particular on MRI, upper limb function and molecular biomarkers. Speakers and panel members include leading experts from industry, patient organisations, regulatory authorities and clinicians Read more
AFM-Telethon Call for proposals The Scientific International Call for Proposals, open to both French and foreign groups, aims to support research which will increase our understanding of the neuromuscular system and/ or encourages the development of therapies for neuromuscular diseases and rare genetic diseases. The Medical Call for Proposals aims to support clinical projects which have the objective of improving the management of patients, the knowledge of the disease and its progression, as well as the quality of life of patients affected by neuromuscular diseases. Read more
Job opportunities The Genethon International Postdoctoral Program 2016 is now open. The Nestle Institute is seeking a Research Assistant in Skeletal Muscle Cell Biology (Lausanne, Switzerland). Read more
Latest Publications from the Institute
Wahbi, K. [Cardiac involvement in dystrophinopathies] Arch Pediatr, 2015 ; 22 (12 Suppl 1) : 12S37-41 Jevtic, G.,Nikolic, T.,Mircic, A.,Stojkovic, T.,Velimirovic, M.,Trajkovic, V.,Markovic, I.,Trbovich, A. M.,Radonjic, N. V.,Petronijevic, N. D. Mitochondrial impairment, apoptosis and autophagy in a rat brain as immediate and long-term effects of perinatal phencyclidine treatment - influence of restraint stress Prog Neuropsychopharmacol Biol Psychiatry, 2016 ; 66 : 87-96 Polesskaya, A.,Pinna, G.,Sassi, Y.,Vandamme, M.,Bigot, A.,Mouly, V.,Morozova, N.,Harel-Bellan, A.,Degerny, C. Post-transcriptional modulation of interleukin 8 by CNOT6L regulates skeletal muscle differentiation Biochim Biophys Acta, 2016 ; 1863 (2) : 263-70 Wojtal, D.,Kemaladewi, D. U.,Malam, Z.,Abdullah, S.,Wong, T. W.,Hyatt, E.,Baghestani, Z.,Pereira, S.,Stavropoulos, J.,Mouly, V.,Mamchaoui, K.,Muntoni, F.,Voit, T.,Gonorazky, H. D.,Dowling, J. J.,Wilson, M. D.,Mendoza-Londono, R.,Ivakine, E. A.,Cohn, R. D. Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Am J Hum Genet, 2016 ; 98 (1) : 90-101 Habbout, K.,Poulin, H.,Rivier, F.,Giuliano, S.,Sternberg, D.,Fontaine, B.,Eymard, B.,Morales, R. J.,Echenne, B.,King, L.,Hanna, M. G.,Mannikko, R.,Chahine, M.,Nicole, S.,Bendahhou, S. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis Neurology, 2016 ; 86 (2) : 161-9 Herlin, B.,Laforet, P.,Labrune, P.,Fournier, E.,Stojkovic, T. Peripheral neuropathy in glycogen storage disease type III: Fact or myth? Muscle Nerve, 2016 ; 53 (2) : 310-2

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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