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Institut de la Myologie

Newsletter #75

Telethon 2019: let us multiply victories

Welcome to the latest issue of our newsletter!

This year, the popular French actor, film director, screenwriter and producer Jean-Paul Rouve will be the ambassador of the Telethon. Join us on December 6 and 7, live on France Télévisions channels and everywhere in France.

A Telethon under the banner of victories. The revolution of gene therapy is there! This medical revolution arose from the determination of families, the proactive strategy of an association of patients, the excellence of researchers and laboratory experts such as the Institute of Myology … as well as the mobilization and loyalty of volunteers, partners and Telethon donors without whom nothing would have been possible! Overcoming diseases hitherto considered incurable is now possible. The first drugs are there. Now, for all those who are still waiting for treatment, these victories must be multiplied!

Further details ont the Telethon 2019

At the Institute
Odile Boespflug-Tanguy, the Head of I-Motion: strengthening the links between preclinical research, clinical research and care Odile Boespflug-Tanguy, a paediatric neurologist at the Robert Debré Hospital, has just become head of the I-Motion Institute, in addition to her position as president of the AFM-Téléthon Scientific Advisory Board. Read more

7th edition of the operation “1000 researchers in schools in France and abroad” The experts of the Institute of Myology are mobilizing again this year to go to colleges and high schools in France and abroad, to share their passion for research and to discover the reality of their daily life. Read more

Science Fair at the Institute - October 11, 12 and 13 As part of this celebration, on October 11, donors are invited to visit laboratories. On October 12 & 13, workshops will be offered to all audiences at the Sorbonne University Science Village on the Jussieu campus. The experts of the institute will discover the amazing secrets of the muscle around different experiences. Read more

Our latest news
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice Antisense oligonucleotides (ASOs) targeting pathologic RNAs have shown promising therapeutic corrections for many genetic diseases including myotonic dystrophy (DM1). Read more

Emery-Dreifuss muscular dystrophy: focal point nuclear envelope Emery-Dreifuss muscular dystrophy is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Read more

Gene Therapy for ALS-A Perspective Amyotrophic lateral sclerosis is a fatal motor neuron disease with no cure. Recent advances in gene therapy open a new perspective to treat this disorder-particularly for the characterized genetic forms. Read more

Scapular dyskinesis in DM1: clinical characteristics and genetic investigations The researchers have just published encouraging results on the mouse for this neuromuscular disease. They are now working on developing this approach in the perspective of a clinical trial. Read more

Natural history of LGMD type R9 over 6 years: searching for trial endpoints An international consortium of researchers reports the long-awaited results of a six-year natural history of FKRP-linked LGM R9 in 26 adult patients who had previously participated in a shorter natural history study (over one year). Read more

Dysregulation of circular RNAs in DM1 Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. Read more

Diaphragm sniff ultrasound: normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders A significant number of neuromuscular diseases induce respiratory problems, mainly due to a deficit of muscles responsible for ensuring an effective ventilation. Among these muscles, the diaphragm, a kind of bellows located between the abdomen and the thorax. Read more

More breaking news
AVXS-101 for SMA1: comparative study with a prospective natural history cohort Zolgensma®, a gene replacement therapy product, received a marketing authorization on May 24 for the treatment of proximal spinal muscular atrophy (SMA) in the US. Read more

Nocebo effect in myasthenia gravis: systematic review and meta-analysis of placebo-controlled clinical trials Nocebo refers to the adverse events (AEs) experienced when taking a placebo drug and is believed to be a centrally mediated process. Read more

Duchenne muscular dystrophy
Spinal muscular atrophy
Charcot-Marie-Tooth disease
Limb-girdle muscular dystrophy
Inflammatory myopathies
Basic research and other disorders
In brief
ERN EURO-NMD webinars - October to December 2019 ERN EURO-NMD organize webinars from 14:00 to 15:00 dealing with different specialized areas related to the neuromuscular domain. Upcoming dates: "Diagnostic imaging in NMD: the basics" on 24 October, "Myotonic dystrophies" on 21 November, "Mitochondrial Donation" on 28 November and "Classification of inflammatory myopathies" on 5 December. Read more

30th International Symposium on ALS/MND - December 4-6, 2019 - Perth, Australie This symposium is organized each year by the Motor Neurone Disease Association. This edition will take place in Perth in Australia from 4th to 6th December. Read more

6th TREAT-NMD International Conference - December 9-11, 2019 - Leiden, The Netherlands The aim of this conference is to share progress and lessons learned from the field of translational medicine in hereditary neuromuscular diseases and to plan the provision of future treatments for patients. Read more

EURO-NMD 3rd Annual Meeting - November 6-8, 2019 - Ferrara, Italy Registration is now open for the annual meeting of the European Reference Network for Rare Neuromuscular Diseases Euro-NMD which will be held in Ferrara, Italy, from November 6th to 8th. Read more

Job opportunity A position for a research associate is available in the research group of Maria Grazia Biferi at the Center of Research in Myology of the Institute of Myology. Read more

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Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientifics news, medical, political and community about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.
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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: Marie-Pierre Verrier Editorial Board: Marianne Perreau-Saussine; J. Andoni Urtizberea; Bertrand Fontaine. Redaction: Anne Berthomier; Lawrence Chambers. Also participate: Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2019 - AFM - Institut de Myologie. ISSN 1772-9866