Newsletter #68

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	Newsletter #68

Meeting between experts and patients on September 15th Welcome to our 68th newsletter! Are you affected by a neuromuscular disease? Join us on September 15th to celebrate the 60th anniversary of the AFM-Téléthon at the Big Family Fest. On the program, a day full of surprises, testimonials and exchanges. You will have the chance to meet doctors and researchers who can inform you about research advances concerning your disease. This anniversary celebration will allow you to dive back into the history of the Association with an exhibition of triumphs and the plenary of festive information that will also be the occasion to launch Telethon 2018. Register now to come and celebrate with us! More information here. Registration for Myology 2019 is now possible and you have until October 15th 2018 to submit your abstracts. Further details on MYOLOGY 2019. We look forward to seeing you there, and in the meantime, we wish you a beautiful summer!
At the Institute
Étienne Klein at the Institute’s Ethics Meetings – 25th September As part of the Institute of Myology’s Ethics Meetings, the Think Tank in Applied Ethics invites Etienne Klein to speak on the topic "Do our discussions about innovation do justice to the idea of progress?” Read more
Launch of a study on diaphragm functioning In order to study diaphragmatic dysfunction related to mechanical ventilation during aging, close collaboration between the GHPS Collection Coordination team, MYOBANK from the Institute of Myology and researchers from the Myology Centre for Research was set up. Read more
Our latest news
Treating dermatomyositis with ruxolitinib A French team has confirmed the link between the activation of interferon 1 (IFN) and the onset of dermatomyositis, and have demonstrated the efficacy of an interferon 1 inhibitor in 4 people with this disease. Read more
Cells of Matter – In Vitro Models for Myotonic Dystrophy Researchers from the Myology Centre for Research have just published a review on relevant cellular models to study Myotonic dystrophy type 1. Read more
A novel MRI-based algorithm to help diagnose and differentiate inherited myopathies presenting with spinal rigidity Having found some hereditary myopathies had a specific profile of diseased muscle, recognizable on mWB-MRI, the authors were able to create a decision algorithm for patients with a stiff-column syndrome by segregating these signs. Read more
Autoimmune Myasthenia Gravis: Results of the French FORCE Trial The results of the FORCE trial evaluating the effects of rituximab in refractory myasthenia gravis have been published. Read more
N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene Oral administration of N-acetyl cysteine (NAC) led to a marked improvement of glutathione content, a decrease in oxidative stress markers including protein carbonyls and an improvement of left ventricular structure and function in a model of LMNA cardiomyopathy. Read more
Feasibility and reliability of muscle shear wave elastography in IBM Degenerative muscle changes may be associated with changes in muscle mechanical properties. Shear wave elastography (SWE) allows direct quantification of muscle shear modulus (MSM). Read more
More breaking news
MFN2 agonists reverse mitochondrial defects in preclinical models of CMT2A Identification of a molecule that targets mitofusin and restores the functions of mitochondria in mouse models of CMT2A. Read more
Effects of cognitive behavioural therapy on the health status of severely fatigued patients with myotonic dystrophy type 1 DM1, the most common adult-onset form of muscular dystrophy, is a multisystem disease with progressively worsening symptoms. Fatigue constitutes the most common non-muscular symptom in patients with this disease, and can exact a heavy toll on their quality of life Read more
Facioscapulohumeral muscular dystrophy PAX7 target genes are globally repressed in FSH skeletal muscle Identification of molecules that inhibit DUX4 gene expression in FSHD
Spinal muscular atrophy Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes Utility of two SMN1 variants to improve genetic counselling for carriers of SMA
Duchenne muscular dystrophy Novel dystrophin expression following long-term treatment with eteplirsen The dystrophin Dp116 coding region is associated with cardiac involvement in DMD Cataract formation in DMD patients on long-term glucocorticoid therapy Reduced regenerative capacity of CD133+ cells derived from DMD skeletal muscles Dantrolene enhances exon-skipping efficacy in the mdx mouse
Other neuromuscular diseases and basic research Overexpression of mutant FKRP restores functional glycosylation and improves dystrophic phenotype in FKRP mutant mice Targeted NGS strategy for the diagnosis of myopathies and muscular dystrophies Development of a checklist for clinical trials in rare disease Refining the phenotype associated with MuSK-related CMS Significant reduction in examination time and user interaction with an automated whole-body MRI workflow Defining the natural history of dysferlinopathies using muscle MRI Targeted gene panel screening to identify undiagnosed late onset Pompe disease Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
In brief
Call 2018, July: "GenOmics of rare diseases" The French Foundation for rare diseases is pleased to launch its call for research projects dedicated to applications of next generation sequencing to unraveling genetic and molecular bases of rare diseases. Read more
SMA Expert Masterclass - 19th & 20th November 2018 This masterclass dedicated to spinal muscular atrophy will take place in Rome, Italy. Read more
TREAT-NMD 6th International Conference - 9th-11th December 2019 Next TREAT-NMD international conference will be held in Leiden, Netherlands. Read more
Launch of the Share4Rare website The Share4Rare Project is based on a socially innovative approach, and building on citizen science and collective intelligence. Read more
Job opportunities Post-doctoral positions are avalaible in London (UK) and Indianapolis (USA), and a Professor of paediatric neuromuscular disease is sought by the university of Oxford (UK). 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. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Hala Alameddine; Delphine Alibert. Do you have any questions? Would you like to share some news? Please contact us. © 2018 - AFM - Institut de Myologie. ISSN 1772-9866