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Institut de la Myologie

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
Congenital myopathies
Other neuromuscular diseases and basic research
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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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