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Institut de la Myologie

Newsletter #97 – September 2023

Get ready for Telethon 2023 on 8 & 9 December!

After Matt Pokora, Soprano and Kev Adams, it’s singer and composer Vianney’s turn to join forces with researchers, families and thousands of volunteers across France in the fight against rare diseases on 8 and 9 December 2023.

The ambassador families for the next Telethon reflect the victories won thanks to you, against diseases that were once incurable, and the hope of finding treatments for those who have none. Ibrahima, aged 2, suffers from spinal muscular atrophy, yet he walks like all children his age, using a gene therapy drug administered 5 weeks after birth, even before the first symptoms appeared. Kelly, 15, is smiling because this therapeutic revolution is proving effective for her condition. For Léon, aged 9, and Tony, father of Ivy, aged 4, the situation is urgent. The urgency to put a name to their disease, the urgency to find treatments for these diseases that are evolving every day.

Save the date! Join us on 8 and 9 December on France Télévisions and throughout France and abroad for the Telethon 2023!

> Find out more about the Téléthon 2023 (in French)

News from the Institute
Our Annual Report 2022 is online 2022 was a particularly eventful year, with the development of strategic cross-functional projects, the creation of a team to accelerate our digital transformation, the strengthening of our quality tools, and growth in our activities, particularly in adult clinical trials. Finally, a major step was taken in the deployment of our Foundation ambition, with the signing of the sale commitment for the acquisition of a plot of land and the selection of the architect for our future building. Read more

The 2023 edition of the “1000 researchers in schools” operation The 2023 edition of the “1000 researchers in schools” operation will run from 6 November to 8 December. Read more

"Fête de la Science" from 9 to 16 October This year’s "Fête de la Science" will take place from 9 to 16 October in France. Read more

Our current scientific and clinical news
Identification of a new form of congenital myasthenic syndrome – Interview with M. Masingue and S. Bauché The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has just been published. The article connects the varied clinical manifestations of the disease with the signalling pathways involved at the neuromuscular junction (NMJ) disrupted by the gene mutation. Read more

Molecular characterisation of SMA not linked to chromosome 5q remains imperfect A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in the SMN1 gene (non-5q SMA). Read more

Institute researchers at the Ottawa NMD 2023 conference Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Read more

The Neuropathies Rehabilitation Summer School Clinicians and researchers from the Institute have given lectures at the Neuropathies rehabilitation summer school in Rome, from 18 to 21 September 2023. Read more

Next 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 guest is Johan Auwerx (Switzerland) on November 20. Read more

More news on myology
Conclusions of a long-term follow-up study in infantile Pompe disease A French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020. Read more

Towards standardised assessment of bulbar function in SMA With the advent of innovative therapies for SMA, the issue of bulbar disorders is becoming increasingly important. An international consortium of specialists has drawn up recommendations for standardised assessment of these impairments. Read more

Spinal muscular atrophy
Myasthenia gravis
Charcot-Marie-Tooth disease
Inflammatory myopathies
Pompe disease
Duchenne muscular dystrophy
Fibrodysplasia ossificans progressiva
Basic research and other disorders
Other news
A history of myology in Europe - Read more

7 September is International Duchenne Muscular Dystrophy Awareness Day - Read more

International Myotonic Dystrophy Awareness Day on September 15 - Read more

SAVE THE DATE 3-4 October - RARE 2023 - Paris, France - Read more

3-7 October - WMS 2023 - Charleston, USA - Read more

5-8 November - MYO-MRI - Berlin, Germany - Read more

DOCUMENTATION Advances in Duchenne muscular dystrophy and Becker muscular dystrophy - Read more

EURO-NMD WEBINARS Upcoming EURO-NMD webinars will take place on 4 October : Dr. Stefano Carlo Previtali "Pathomechanisms of Charcot-Marie-Tooth", on 12 October : Dr. Davide Pareyson "Treatment of Charcot-Marie-Tooth", on 19 October : Prof. Dr. Kleopas A. Kleopa "Gene Therapy", on 26 October : Prof. Dr. Shahram Attarian "Diagnosis of Charcot-Marie-Tooth Disease", on 9 November : Prof. Dr. Joachim Weis "Pathology of Peripheral Nerves" - 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 scientific, medical, political and community news about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.
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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. Do you have any questions? Would you like to share some news? Please contact us. © 2023 - 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.