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Institut de la Myologie


Newsletter #71

The Institute of Myology wishes you a successful 2019

Welcome to the first issue of our newsletter for the new year!

Victory was the theme of the 2018 Telethon and the Institute of Myology can be proud of its own victories, which undoubtedly contribute to the whole. The year 2018 has been rich in progress and the institute is proud of every step taken and of the road traveled in all the fields of its activities going from research to the care while passing by the evaluation, the diagnosis and without forgetting teaching. All our talents will be more than necessary to win the battle, the battle against the disease and its ravages. Let’s hope that 2019 also has some great victories!

 

At the Institute
ERN-Euro-NMD, a major European health network coordinated by T. Evangelista Teresinha Evangelista is a clinical neurologist and a researcher at the Morphological unit of the Institute of Myology. She has just been reappointed as coordinator of the ERN-Euro-NMD Neuromuscular Disease Network. It brings together 61 healthcare providers (HCP) located in 14 European countries, including 8 centers in France. Read more

Two trials on DMD just started at I-Motion The first I-Motion patient for Wave's OLE phase was screened on January 7th. Still in Duchenne muscular dystrophy, the first patient of the institute was screened at the end of December in the Anti-myostatin study. Read more

Marie Gaille at the Institute’s Ethics Meetings – 19th March Next Ethics Meeting of the Institute of Myology will be held on 19th March. Marie Gaille (Centre de recherche sens, éthique, société, CNRS Paris Descartes University) will speak on "Genomics, genetic diagnosis, predictive medicine, our humanity at the time of high throughput sequencing". France Leturcq (Molecular Biology and Genetics, Cochin Hospital) will be at her side as a discussant. Read more

Our latest news
A functional human motor unit platform engineered from human embryonic stem cells and immortalized skeletal myoblasts Immortalized human myoblasts were co-cultured with hESCs derived committed NPCs. Over the course of the 7 days myoblasts differentiated into myotubes and NPCs differentiated into motor neurons. Read more

 Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle The authors show that dynamin 2 whose mutations cause centronuclear myopathy (CNM), regulates both clathrin plaques and surrounding branched actin filaments while CNM-causing mutations lead to desmin disorganization in a CNM mouse model and patient biopsies. Read more

Comprehensive evaluation of structural and functional myocardial impairments in BMD using quantitative CMR imaging In BMD Patients, myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. Read more

Histopathological patterns and structural alterations in titin-related myopathies Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. The authors performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes. Read more

Reducing dynamin 2 corrects DNM2-related dominant centronuclear myopathy Centronuclear myopathies are a group of severe muscle diseases for which no effective therapy is currently available. Read more

Pathogenicity of IgG from patients with anti-SRP or anti-HMGCR autoantibodies The pathological role of anti-SRP and anti-HMGCR autoantibodies was demonstrated in 2017 in vitro in muscle biopsies of patients with necrotizing myopathy: impairment of muscle regeneration and atrophy of the muscle fiber. Read more

More breaking news
AAV CRISPR editing rescues cardiac and muscle function for 18 months in dystrophic mice AAV-mediated CRISPR editing is a revolutionary approach for treating inherited diseases. The authors treated 6-week-old mice intravenously and evaluated disease rescue at 18 months. Read more

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with SMA RG7800 is an oral, selective SMN2 splicing modifier designed to modulate alternative splicing of SMN2 to increase the levels of functional SMN protein. Read more

Duchenne muscular dystrophy
Spinal muscular atrophy
Mitochondrial myopathies
Metabolic myopathies
Other neuromuscular diseases and basic research
In brief
Rare Disease Day 2019: "Bridging health and social care" - 28 February, Worldwide In 2019, Rare Disease Day theme will focus on bridging the gap between medical, social and support services in order to tackle the challenges encountered by people living with rare diseases and their families. Read more

IV National Conference of Women Researchers in Rare Diseases - 22 February, Spain Doctors, researchers and patients will meet in Valencia, Spain, to discuss about therapies, treatments, Clinical and Genetic research of the rare diseases. All the speakers are women working in this field. Read more

7th Translational Research Meeting on Peripheral Neuropathies - 13th June, France Organized by the French National Reference Center « Rare Peripheral Neuropathies » Limousin-Auvergne, the meeting will focus on "The axon: a translational update". It will take place at the Institute of Myology, Paris. Read more

Consensus-based care recommendations for adults with myotonic dystrophy type 1 The Myotonic Dystrophy Foundation recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. Read more

FSH Society launches a call for grant applications FSH Society research and fellowship grant awards provide vital startup funding for research projects on FSH muscular dystrophy. This fellowship program allows innovative and entrepreneurial research to develop and ultimately attract larger grants. Deadline: February 28, 2019. Read more

RD-Connect webinars The series of 3 RD-Connect webinars are now available on ERN-Euro-NMD website. They have been recorded in September 2018 and deal with "Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform", "Finding registries and biosamples in just a few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue" and "Linking up all those data: why should we make data FAIR". Read more

Job opportunities At the Institute of Myology, a postdoctoral position is available in the Trollet/Mouly team and a Bioinformatician position for the Center of Research in Myology. A postodctoral position in Basic and Clinical Muscle Biology is available at the Karolinska Institutet, Sweden. 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: Racquel N. Cooper; Anne Berthomier. 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