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Institut de la Myologie

Newsletter #81

Experts from the Institute of Myology take the floor

The 25th International Annual Congress of the World Muscle Society, which brings together muscle experts from all over the world, will highlight the work of many researchers from the Institute of Myology created by AFM-Telethon.

The French popular singer Matt Pokora will be the ambassador of Telethon which will take place on 4 and 5 December. The 2020 edition of the Telethon will convey the faces of the victories won over the disease thanks to the mobilization of all: Hyacinthe, Soheÿnn, Augustin, Alix, Jules … and many other children who benefited from gene therapy that gives them the strength to grow up.
He will also raise the voices of families whose disease is at the gates of treatment and who keep on the fight, armed with progressing research, strong with the hope that will also become a reality for them. Indeed, trials are increasing for neuromuscular diseases, such as Duchenne myopathy or a form of myopathy of the girdles, but also for other rare diseases of the liver, vision …

At the Institute
Experts from the Institute of Myology take the floor From fundamental research to therapeutic advances, no less than 32 communications (e- posters and talks) will be presented by the scientific experts of the Institute between 28 September and 2 October. Note the creation of the Muscle Atlas, the first muscle image database to accelerate research, diagnosis and therapeutic approaches. Read more

Relationship between clinical status and physical activity in patients suffering from inflammatory myopathies Océane Landon-Cardinal, MD, and Damien Bachasson, PhD, look back to an article of which they are the first co-authors which relates to the relationship between symptom severity and physical activity in patients with inflammatory myopathies. Read more

"Fête de la Science" at the Institute: 6-10 October The event will take place virtually this year. The researchers supported by the AFM-Telethon live from their lab as part of the virtual aperitifs of the Fête de la Science, from Tuesday 06 to Friday 09 October from 6.30 p.m. to 7.30 p.m. Read more

Launching of “1000 researchers in high schools” For the 8th year, the institute's experts will participate in the "1000 researchers in high schools" operation organized by AFM-Telethon. Under these unprecedented conditions, everything will be done to ensure that great meetings take place, face-to-face as much as possible, and by videoconference if necessary. Read more

Our latest news
Myositis, an early, frequent and potentially serious side effect of immune checkpoint inhibitors If immune checkpoints inhibitors (ICI) boost the anti-tumor action of the immune system, they also promote the onset of autoimmune pathologies, fsuch as inflammatory myopathies. Read more

Myopathies linked to the FLNC gene and presence of rods: an unusual observation that tends to widen the phenotype spectrum Myopathies linked to the FLNC gene are genetically determined neuromuscular diseases have an increasingly wide phenotype spectrum, especially since the application of high-throughput sequencing (NGS) to atypical clinical pictures with no molecular signature. Read more

Identification of new biomarkers is required to improve adult SMA patient stratification, diagnosis and treatment During treatment with nusinersen, the most widely administered treatment so far, a high degree of variability in the therapeutic response has been observed in adult patients with SMA. Read more

Homoplasmic deleterious MT-ATP6/8 mutations in adult patients To assess the frequency of complex V defects, French researchers systematically sequenced the MT-ATP6 / 8 genes in 512 consecutive patients. They performed functional analysis in muscle, fibroblasts and cybrids. Read more

Rare diseases: building a Treatabolome The authors propose instructions for writing FAIR-compliant systematic reviews of rare disease treatments that build a Treatabolome database to complement existing diagnostic and management tools with awareness data to treatment. Read more

Quantitative MRI of interest in GNE myopathy In GNE myopathy, standard MRI shows the progression of fatty infiltration into the muscles of the lower limbs. The quantitative MRI (qIRM) allows to refine the observation. It detects more subtle muscle changes early on and makes it possible to measure the affected areas, the percentages of fat, water … Read more

More breaking news
Muscle damages caused by FSH2 are better understood FSH is characterized by progressive involvement of the muscles of the face and the shoulder girdle, then the muscle of the legs and trunk. FSH1, (95% of cases) due to a decrease in the number of repeats of a D4Z4 sequence, located on chromosome 4, is different from FSH2 (5% of cases), linked mainly to abnormalities in the SMCHD1 gene, located on chromosome 18. Read more

rAAVrh74.MCK.micro-dystrophine administration in 4 boys with DMD results in dystrophin production and has a functional effect This article reports the results of a phase I / II clinical trial still underway in the USA which evaluates the safety and efficacy of rAAVrh74.MCK.micro-dystrophin (SRP-9001), a gene therapy product developed by Sarepta Therapeutics. Read more

Inflammatory myopathies
Spinal muscular atrophy
Duchenne and Becker muscular dystrophies
Myasthenia gravis
Charcot-Marie-Tooth disease
Pompe disease
Myotonic dystrophies
Basic research and other disorders
In brief
European Alliance for Newborn Screening in SMA (SMA NBS Alliance) Enable early detection and diagnosis of the disease, this is the goal of the new European Alliance for Newborn Screening in SMA(SMA NBS Alliance), launched on August 31 by SMA Europe, of which AFM-Telethon is a member. Read more

Action Duchenne International Conference 2020 - 14-15 November 2020 - virtually For the first time ever, the Conference will be a content-packed, online event and will focus on the weekend of 14/15 November. 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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Chief Editor: Vincent Varlet. Editorial Board: Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chambers; Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2020 - AFM - Institut de Myologie. ISSN 1772-9866