Newsletter #90

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	Newsletter #90

Thanks to the mobilization of donors, volunteers, families, partners, all united during this great celebration of solidarity for the benefit of the fight against rare diseases, the final collection of the 2021 Telethon amounts to €85,933,166. To all, thank you! On December 3 and 4, 2021, the French once again attended the Telethon. Driven by the desire to be together and thanks to everyone’s generosity, the final collection of the 2021 Telethon reached €85,933,166! A huge THANK YOU to everyone! “This 2021 Telethon has made it possible to rediscover the conviviality of the activities and the pleasure of being together. It is this collective strength that allows patients and researchers to move mountains and achieve initial victories against the disease! And it is the one that will allow us to multiply them!’ said Laurence Tiennot-Herment, President of AFM-Téléthon. See you for the 2022 Telethon! Already, the volunteers are in the starting blocks, more motivated than ever, to prepare their animations, and the TV program is under construction with France Télévisions. You have seen it in 2021, victories have been won against diseases, but other patients are still waiting for treatment. For them, the Telethon can change everything. We don’t give up: see you on December 2 and 3 for the 2022 Telethon!
At the institute
A new approach to gene therapy for Steinert's disease The Denis Furling team, in collaboration with the Nicolas Sergeant team (Lille), has developed and tested a new approach to gene therapy, a so-called “decoy” approach, for DM1, which strategy is based on the expression of modified proteins that will bind to the foci in the location of and instead of the endogenous MBNL1 proteins, in order to free the latter and restore their activity in the muscle cells expressing the DM1 mutation. Read more
Lower limb exoskeletons: 2 clinical studies starting at the Institute The NMD are characterised, in particular, by a progressive loss of muscle strength. As a result, getting up, sitting down or going up stairs can quickly become difficult. This is why the Institute of Myology has just launched two studies, whose objective is to assess the efficacy of two robotic exoskeletons to compensate for muscle weakness in the lower limbs, among 80 patients with neuromuscular diseases. Read more
My thesis in 180 seconds: Louison Lallemant, 2022 Public prize winner Louison Lallemant, doctoral student in the REDs team, has just won the Public Prize awarded by Internet users and the public attending the Sorbonne University Final of the "My thesis in 180 seconds" competition. Read more
Upcoming M&M's – Muscle Monday Seminars M&M’s – Muscle Monday Seminars are organized by the Myology Centre for Research, at the Institute of Myology. They are given by videoconference. Next guests in April & May 2022 are: Charles A. Gersbach on April 11th and Shahragim Tajbakhsh on May 16th. Read more
Our latest news
New type of histological abnormalities in congenital nemaline myopathies French clinicians report, in five patients with congenital rod myopathy (also called nemaline), histological lesions in the form of dense protein masses. Read more
Splicing efficiency of minor introns in a mouse model of SMA The splicing efficiency of minor introns in a mouse model of SMA mainly depends on their branch point sequence and may involve the contribution of major spliceosome components. Read more
Muscle cells of patients with sporadic ALS secrete neurotoxic vesicles Amyotrophic lateral sclerosis is characterized by motor neuron degeneration that eventually dies. While the cause of MN death is unknown, one hypothesis is that its cellular environment may play a key role in its survival. Read more
Review of the advances in understanding the pathophysiology of autoimmune disorders in NMJ Autoimmune disorders of the neuromuscular junction are characterized in particular by fatigue and muscle weakness, there is no cure for these disorders so far. Read more
Echocardiography and renin-aldosterone interaction as predictors of death in COVID-19 In this article, French clinicians report the results of a study aimed at clarifying the interaction between RAAS, systemic inflammation and pulmonary and cardiac involvement in COVID-19. Read more
More breaking news
Myology 2022 and mitoNice 2022: programs are online The programs of these two major scientific congresses are online. Last call for abstracts: exceptionally, the deadline for abstracts is postponed until April 15. Read more
A natural microRNA spiked with small molecules to knock down DUX4 in FSHD FSHD is characterized by an aberrant expression of the DUX4 gene. To prevent it, in a gene silencing approach, a therapeutic avenue consists in specifically binding the messenger RNA of DUX4 to synthetic RNAs of the complementary siRNA or miRNA type. Read more
A catalog of sodium channel variants to guide in the diagnosis of certain myotonic syndromes An international consortium of researchers has catagorized, based on literature data, the biophysical and genetic characteristics of 437 sodium channel variants known to date. Read more
Duchenne & Becker muscular dystrophy Lipid nanoparticles to improve gene editing in mice A cohort of patients with DMD with exon 2 duplication An ancillary study of the ginivostat trial in Becker myopathy looking for more objective criteria A promising technique to study muscle fibrosis at the cardiac level A meta-analysis confirms the increase of 10 years in life expectancy in DMD Variety of practices in the cardiac management of patients with DMD Glucocorticoids more helpful for breathing than for the heart past loss of walking ability in DMD An innovative test for the genotyping of difficult cases of DMD and a better pathophysiological approach
Inflammatory myopathies Correlations between histology and immunological signature in dermatomyositis Myositis carries an increased cardiovascular risk according to several large-scale studies Positive anti-FHL1 antibodies in certain inflammatory myopathies Gastrointestinal motility disorders may accompany dermatomyositis Searching for protective factors against cancer risk in dermatomyositis
Spinal muscular atrophy About the economic interest of the compassionate use of innovative treatments Antisense oligonucleotides targeting the promoter region of the SMN2 gene in preclinical development in SMA High-throughput genomic sequencing (NGS) proves reliable for detecting deletions of the SMN1 gene Calpain 1 gene involved in spinal muscular atrophy type 4 unrelated to SMN1
Muscle lipidosis A pilot experiment in neonatal screening for primary carnitine deficiency A compilation of data on primary carnitine deficiencies No beneficial effect of resveratrol in fatty acid oxidation disorders
Myotonic dystrophies A first positive assessment of the Japanese myotonic dystrophies registry Steinert disease: Mexiletine is not effective for walking but for myotonia
Basic research and other disorders Systemic injection of an optimized antisense oligonucleotide into an FSH mouse model appears to be effective Corticosteroids may improve or stabilize motor function in Fukuyama congenital muscular dystrophy Phenylbutyrate restores dysferlin localization and membrane repair in cellular and animal models of dysferlinopathies Irreversible consequences of temporarily stopping ERT in Pompe disease Intranuclear inclusions in oculo-pharyngo-distal myopathy (OPDM) CAP2: a new gene responsible for nemaline myopathy mRNA vaccines in MNM: a satisfactory response despite muscle atrophy Genetic causes of tubular aggregate myopathy remain common The number of people with MNM has been steadily rising for 20 years in the UK Evaluation of Fitbit® connected bracelets in NMD International guidelines to improve assessment in MNMs A very rare Kennedy disease genotype in a Norwegian family An inventory of tools used in the assessment of neuromuscular patients Plasma biomarkers in myositis ossificans Update on hematological abnormalities in neuromuscular genetic pathologies
In brief
France revives positive European Momentum against Rare Diseases It is a positive commitment, but France must set an example by perpetuating and amplifying a truly ambitious national policy. Read more
Upcoming webinars organized by EURO-NMD Upcoming webinars organized by the European network EURO-NMD: "Duchenne Muscular Dystrophy genetic diagnosis" le 7 avril, "Gene therapy, cancer and neuromuscular diseases" on April 21st and "Primary Mitochondrial Myopathies" on May 12th. Read more
A book to explain Duchenne muscular dystrophy to affected children A small book for children with DMD has been designed by the Marseille Reference Center. The usefulness of this didactic and abundantly illustrated work was the theme of a prospective study with nine children with DMD and their parents. Read more
Job opportunities The Institute of Myology is recruiting a Clinical Research Associate and a Pediatrician or Pediatric neurologist. Read more

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Legal This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Fabrice Chrétien; Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chamber. Do you have any questions? Would you like to share some news? Please contact us. © 2022 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.