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Institut de la Myologie


Newsletter #77

The Institute of Myology wishes you all the best for 2020

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

The counter of the 2019 Telethon, which took place on December 6 and 7, displays 74 569 212 euros. A result that will help multiply victories ! “The 2019 Telethon is that of promises kept. Thirty years ago, there was nothing. Most rare diseases did not even have a name. Today, scientific victories have first names. I would like to tell the French people how grateful I am for their generosity and loyalty. Without them nothing would have been possible, and because of them everything becomes possible. The counter of the 2019 Telethon is crucial because it announces tomorrow’s victories. These victories for Jonas and all those who wait” said Laurence Tiennot-Herment, President of AFM-Telethon, at the end of the 30-hour marathon.

In 2020, Rare Disease Day will be on Saturday 29 February. Around the world, this rare day is a special time to show support for people with rare diseases and their families, and to help raise awareness of rarity: to be rare is to be many, to be strong and to be proud !

Also noteworthy is the arrival of a new Secretary General, Vincent Varlet, in an extremely dynamic news for the Institute. Enjoy your reading!

 

At the Institute
Efficiency of AAV serotype transduction after local injection - Interview with C. Trollet The “Cell and Molecular Orchestration in Muscle Regeneration, Ageing and Diseases” team, at the Institute’s Myology Centre for Research, which is co-directed by Capucine Trollet and Vincent Mouly, has just published an article relating to the transduction efficiency of different AAV serotypes after a local intramuscular injection in Hum Gen Ther. Read more

High throughput sequencing to diagnose “unidentified” myopathies – Interview with T. Stojkovic The project entitled “Unidentified myopathies after negative results for corresponding thematic panels” aims to integrate high throughput sequencing technologies into the diagnostic strategy for unidentified myopathies in order to tailor the multidisciplinary treatment of the patient and in anticipation of complications, to avoid diagnostic errors and examination redundancy, to have access to reliable genetic consultation, and to allow inclusion in therapeutic trials. Read more

23rd Summer School of Myology Organized by the Institute of Myology in Paris, the 23rd Summer School of Myology will take place from Monday June 22nd to Tuesday June 30th, 2020. Read more

Our latest news
MR fingerprinting for water T1 and fat fraction quantification in fat infiltrated skeletal muscles Muscle imaging, and in particular magnetic resonance imaging (MRI), is often used for diagnostic purposes in myopathies. It is being used more and more in clinical trials, in particular concerning DMD. Read more

Home-based monitor for gait and activity analysis To enable home-based monitoring of gait and activity, Acti-Myo, a wearable magneto-inertial sensor (WMIS) has been developed. This device is a movement monitor composed of two very light watch-like sensors and a docking station. Read more

The SMYD3 methyltransferase promotes myogenesis by activating the myogenin regulatory network The coordinated expression of myogenic regulatory factors, including MyoD and myogenin, orchestrates the steps of skeletal muscle development, from myoblast proliferation and cell-cycle exit. Yet, it remains unclear how key transcription factors and epigenetic enzymes cooperate to guide myogenic differentiation. Read more

A high prevalence of arterial hypertension in patients with mitochondrial diseases Between January 2000 and May 2014, clinicians retrospectively included patients with mitochondrial diseases diagnosed by genetic testing. Clinical, genetic and cardiac exploration data, including blood pressure measurement, were also recorded. Read more

The muscle is not a passive target in myasthenia gravis This article focuses on the cascade of pathophysiologic mechanisms taking place at the NMJ and its consequences on the muscle biology, function, and regeneration in myasthenic patients, at the histological, cellular, and molecular levels. Read more

Sitting position acquired in patients with spinal muscular atrophy type 1 treated with nusinersen Using data from the registry of patients with SMA1 treated with nusinersen, a team researchers compared the subgroups of sitters and non-sitters after 14 months of therapy as a function of baseline level, according to different criteria. Read more

Granulomatosis-associated myositis: High prevalence of sIBM In this study, the researchers aimed to refine the predictive importance of muscle granuloma in patients with myositis. For this, three groups of patients followed in 8 French and Belgian centers were created. Read more

Type III glycogenesis (GSDIII): a European study emphasizes the role of autophagy Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Read more

MYO-MRI diagnostic protocols in genetic myopathies In the arsenal of tools for arriving at a diagnosis of certainty for muscular dystrophies, magnetic resonance imaging has experienced unprecedented growth in recent years. Read more

More breaking news
Inflammatory myopathies, are they interferonopathies? The pathogenic mechanisms for idiopathic myositis (or inflammatory myopathies) are becoming ever clearer. In particular, they involve interferons (IFNs), whose role has been demonstrated by the transcriptome analysis of tissues or cells taken from patients with myositis. Read more

Salbutamol in CMS: the structural reasons for its functional effect are becoming clearer Acetylcholine receptor deficiency is the most common form of the congenital myasthenic syndromes, a heterogeneous collection of genetic disorders of neuromuscular transmission characterized by fatiguable muscle weakness. Read more

Duchenne and Becker muscular dystrophies
Spinal muscular atrophy
Myasthenia gravis
Limb-girdle muscular dystrophy
Myotonic dystrophy type 1
Basic research and other disorders
In brief
EMBO workshop - Muscle formation, maintenance, regeneration and pathology - 5-10 April 2020 - Gouvieux, France Abstract submission deadline: 5 February 2020. Read more

International Conference on Novel Physiotherapies, Physical Rehabilitation and Sports Medicine - 15-16 June 2020 - Rome, Italy The theme of the conference focuses on “Recent Advances in Pain Management and Rehabilitation”. Read more

ERN-EuroNMD webinar in February 2020 Next webinar organised by ERN-EuroNMD will take place on 20 February 2020 and focus on "Mitochondrial Donation". Read more

Job opportunities The Institute of Myology hires an Engineer (M/F), Research Engineer (M/F) and a Helpdesk Assistant (M/F). 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: Bertrand Fontaine ; Emmanuelle Guiraud ; J. Andoni Urtizberea ; Vincent Varlet. Writing: 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