Newsletter #70

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	Newsletter #70

Welcome to the 70th issue of our newsletter! On December 7th, Telethon 2018 will begin and will be diffused on France 2. This Telethon will be marked by many victories including the first gene therapy results for neuromuscular diseases. Children who have not been able to move, sit up, raise their arms or catch things since birth, regain their breathing autonomy and, for some, stand up … Thanks to the work of two researchers from Genethon and the Institut of Myology- Martine Barkats and Ana Buj Bello, these exceptional results in spinal muscular atrophy (SMA) and myotubular myopathy, will propel us into a new era. Gene therapy, carried out against all odds by the AFM-Telethon and its laboratories for more than 20 years, is now performed worldwide. And this Telethon 2018 will be the privileged witness. Do not miss the testimonials and the exceptional images that will be broadcast on France 2 during the Scientific programme on Saturday morning and prime time on the Saturday night All information about Telethon 2018 (in french). Join us during the various events organized at the Institute of Myology since November 12th and which will continue until December 9th (the programme in French is online).
At the Institute
Redefined priorities for the Center for Research in Myology Interview with Prof. Bertrand Fontaine, current director of the CRM, which specifies the main lines of research and organization of the center for the next five years. Read more
Bruno Cadot awarded the “Elsevier Big Prize” at the WMS Congress Here, Bruno Cadot sums up the work rewarded by this prize, which concerns the connection between nucleus and cytoskeleton and the positioning of the nucleus during the formation of the muscle. Read more
University degree in genetic diseases – a multidisciplinary approach A. Herson and M. Frischmann, pedagogical coordinators of training, bring to this interview information on the choice and coherence of the themes developed during this course. Read more
Live from the Summer School of Myology... The 22nd edition of the SSM will take place next June (17-22). On another note, all alumni of the SSM of Paris benefit from a special rate to register for MYOLOGY 2019. Read more
Our latest news
Potential pathogenic role of anti-SRP and anti-HMGCR antibodies in IMNM This review provides an overview of the roles of anti-SRP and anti-HMGCR in IMNM over the past 5 years. Read more
Nusinersen is effective in SMA 1 patients older than 7 months This study evaluated the safety and clinical efficacy of nusinersen in 33 children (aged between 8.3 to 113.1 months) with spinal muscular atrophy type 1 Read more
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility The authors describe 18 patients carrying STAC3 pathogenic variants, the largest cohort of patients with STAC3-related congenital myopathy studied up to now. Read more
Characterisation of late-onset Pompe disease in France This study describes molecular features and epidemiology of late-onset PD and investigated potential correlations between genotype and age at disease onset in the largest population of French late-onset PD patients ever reported. Read more
The motor unit number index (MUNIX): a promising candidate biomarker in adult SMA patients This study aimed to characterise motor unit loss in SMA type III and IV using the motor unit number index (MUNIX), and to evaluate compensatory mechanisms based on MU size indices (MUSIX). Read more
More breaking news
CRISPR gene editing in a canine model of DMD Here, the authors used AAV to deliver CRISPR gene editing components to four dogs and examined dystrophin protein expression 6 to 8 weeks after intramuscular delivery. After systemic delivery in skeletal muscle, dystrophin was restored to levels ranging from 3 to 90% of normal, depending on muscle type. Read more
Co-administration of AAV Vectors with SVP-Rapamycin enables vector re-administration in pre-clinical gene therapy Immunogenicity of AAV viral vectors has been a major roadblock to vector re-administration which may be required to ensure the durability of gene therapy, particularly for systemic and pediatric applications. Read more
Duchenne muscular dystrophy Urinary titin: a non-invasive biomarker for DMD? Effects of interventions for preventing or treating cardiac complications in dystrophinopathies Multiexon skipping by antisense PMOs in a dystrophic dog and exon 7-deleted DMD patient Long-term glucocorticoid treatment slows pulmonary disease progression in DMD Efficacy of methylphenidate in DMD patients with comorbid ADHD Myoglobinuria in DMD: a potential side effect of zoledronate Safety of vamorolone in DMD
Spinal muscular atrophy Nusinersen use in SMA AVXS-101 SMA gene therapy product submitted for marketing authorisation in the U.S., Europe, and Japan
Other neuromuscular diseases and basic research Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome MYL1 deficiency is associated with a severe congenital myopathy The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM) Review of the 23rd International Congress of the World Muscle Society Molecular diagnosis of inherited peripheral neuropathies using targeted NGS Altered fecal microbiota pattern in MG patients Urine extracellular mRNA as a source of biomarkers of muscular dystrophies Strength training in McArdle Disease
In brief
Myology 2019 Bordeaux Online registration are available until January, 31th 2019. Read more
3rd Global Conference on Myositis (GCOM) - 27-30 March 2019 in Berlin The Global Conference on Myositis (GCOM) is the premier international conference on inflammatory neuromuscular disorders. It will take place in Berlin, Germany. Read more
Updated DMD Guide for Families A 2018 current and comprehensive Duchenne Guide for Families ensuring that the very latest in care standards are accessible to all people living with Duchenne. Read more
FSH Society webinar with Stephen Tapscott In this webinar, Dr. Stephen Tapscott, one of the world’s leading scientists working on the fundamental understanding of FSH muscular dystrophy, gives an update on the current understanding of the condition. Read more
Job opportunity The University of Zurich (Switzerland) offers a Tenure Track Assistant Professorship in Muscle Biology. 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: Marie-Pierre Verrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea; Bertrand Fontaine. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2018 - AFM - Institut de Myologie. ISSN 1772-9866