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Institut de la Myologie

Newsletter #93

On 2 and 3 December, Kev Adams will be the ambassador of the Telethon 2022. The French comedian and actor is committed to working alongside the ambassador families around Lucie, Benjamin and Lou and the researchers, families and thousands of volunteers mobilised throughout France and abroad in the fight against rare diseases.

Faced with incurable diseases that were destroying the lives of their children, the parents of the AFM-Telethon took up unprecedented challenges in scientific and medical research. Because they did not give up, and chose genetics and then gene therapy, when few believed in them, diseases that were once unknown are now diseases that have been overcome. A true revolution in medicine is underway, changing the lives of patients. But because 95% of rare diseases remain untreated, it is more necessary than ever to continue to innovate, to multiply the victories. For all those who are waiting for a treatment, we must continue to fight and not give up!

At the institute
The work of two researchers from the Institute awarded at the WMS Harmen Reyngoult, co-team leader of NMR Laboratory – Spectroscopy Laboratory and Amélie Vergnol, PhD student in the Gene Therapy for DMD & Skeletal Muscle Pathophysiology Group received the Elsevier Subscription Prize at the WMS 2022. Read more

10th edition of the “1000 researchers in schools” campaign – 7 Nov-3 Dec The scientific information campaign for secondary school students "1000 researchers in schools in France and abroad" is celebrating its 10th anniversary! The Institute's researchers, who are very involved in the operation, allow students to learn about the latest advances in biomedical research, gene therapy, stem cells, etc., and the daily life of a researcher. Read more

Our latest news
A tool to evaluate cardiac risk in patients with mitochondrial disease Interview with Prof. Karim Wahbi, cardiologist, who has just published the results of an international study that he coordinated with his “Registries and databases” team at the Institute. The paper focuses on predicting cardiac complications in adult patients with mitochondrial diseases. Read more

Characterisation of PABPN1 aggregates in OPMD Interview with Capucine Trollet who, with Vincent Mouly, led an international study on the characterisation of PABPN1 aggregates in a unique series of 90 muscle biopsies from DMOP patients and in a xenograft model. Read more

Developing allele-specific versatile siRNAs that can silence all dominant mutations in dynamin 2 After providing proof of concept of an allele-specific RNA interference therapy aimed at silencing the mutated mRNA without affecting the normal allele, and demonstrating the long-term maintenance of the therapeutic efficacy of this approach in a mouse model and in patient-derived cells, researchers from the institute have developed versatile interfering RNAs (siRNAs) that can be used regardless of the mutation. Read more

The value of myostatin measurement in the follow-up of inflammatory myopathies Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in Paris have investigated the hypothesis that the determination of myostatin, a muscle growth inhibitory factor, may be useful in this context. Read more

The concept of ‘actionable’ genes applied to myopathies A gene responsible for a given disease is said to be ‘actionable’ if it has direct or indirect therapeutic applications. This new concept in the genomic approach to hereditary diseases is of obvious interest to the patients themselves. A consortium of French geneticists sponsored by the FILNEMUS network has seized on the concept by applying it to myopathies. Read more

The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion contributed, involved 34 children under 4 years of age with X-linked myotubular myopathy on respiratory support. Read more

ACTA1 gene-related nemaline myopathies: an international study to clarify phenotypes Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated by the Institute of Myology of Paris collected data on ten new cases of this myopathy. Read more

Restoration of dystrophin after AAV U7-mediated Dmd exon skipping is modulated by muscle exercise in the mouse model of severe DMD A team of French researchers, involving researchers from the Institute, showed in a mouse model of severe DMD that voluntary exercise has an impact on a Dmd exon skipping approach and on muscle physiology. Read more

Moxifloxacin, an antibiotic of interest in SMA An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. This quinolone antibiotic was administered daily subcutaneously to mouse models of SMA. Read more

Upcoming Monday Muscle Seminars M&M's Upcoming Monday Muscle Seminars M&M's organized by the Myology Centre for Research: Monday November 21st, 14:00 - Sustaining Power: Building Energy Networks in Striated Muscle par Brian Glancy and Monday November 28th, 12:00 - Desmin intermediate filament loss promotes muscle wasting during aging or disease par Shenhav Cohen. Read more

More breaking news
FKRP Limb-girdle muscular dystrophy : first patient treated in the European gene therapy clinical trial The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9). This is a major step, the result of 30 years of excellence in research led by Isabelle Richard, head of the Progressive Muscular Dystrophies team at Genethon. Read more

A new mutation mechanism in SMA A few very rare cases of SMN1-related proximal spinal muscular atrophy (SMA) are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation in a 50 year old patient with type III SMA. Read more

Pregnancy in a woman with myasthenia gravis, a risky situation A Canadian team used a US database (Healthcare cost and utilization project, nationwide inpatient sample - HCUP-NIS) to conduct a retrospective cohort study (2005 - 2015) of nearly 10 million deliveries, including 974 of women with autoimmune myasthenia. Read more

Duchenne & Becker muscular dystrophies
Spinal muscular atrophy
Inflammatory myopathies
Myasthenia gravis
Congenital myopathies
Mitochondrial myopathies
Metabolic myopathies
Charcot-Marie-Tooth disease
Myotonic dystrophies
Limb-girdle muscular dystrophies
Fibrodysplasia ossificans progressiva
Facioscapulohumeral myopathy
Congenital muscular dystrophy
Basic research and other disorders
In brief
2023 Advances in Skeletal Muscle Biology In Health and Disease Conference - March 15th-17th, 2023 - Florida, USA Registration is now open for this conference. Read more

Upcoming webinar organized by EURO-NMD Upcoming webinar organized by the European network EURO-NMD : December 22nd, 2022 - Prof. Marianne de Visser, Dysphagia in Neuromuscular Diseases. And January 26th, 2023 - Prof. Kristl Claeys, Proximal weakness. Read more

Symposium 2022 – The Gene Therapy Revolution Underway: The Latest Advances – November 16th, 2022, Paris The GTRU 2022, an international scientific symposium dedicated to the advances and challenges of gene therapy, was held on Wednesday 16 November 2022. This event entitled "The Gene Therapy Revolution Underway: The Latest Advances" is organised by the DIM Thérapie Génique, of which Vincent Mouly is a member. Read more

4th Neuromuscular Translational School, Nov. 21st-25th - Leiden, The Netherlands This session of the Neuromuscular Translational School aims to educate clinicians and researchers working in the field of MNM on aspects relevant to the development of translational therapies, as well as to describe and demonstrate how networks such as EURO-NMD and TREAT-NMD facilitate the development of therapies. Read more

30 September: International Muscular Dystrophy Awareness Day Organised by the LGMD Awareness Foundation, the aim of this day is to draw attention each year to this group of rare neuromuscular diseases that impact on the lives of many people, children and adults, in all regions of the world. Read more

September 15: International Myotonic Dystrophy Awareness Day September 15, 2022 marks the second International Myotonic Dystrophy Awareness Day, which aims to highlight these rare diseases in order to improve diagnosis, care and support, as well as to advance research. Read more

World Duchenne Awareness Day: women speak out September 7th is World Duchenne Muscular Dystrophy Awareness Day. To talk about it, this year, the theme chosen for the Awareness Day is “Women and Duchenne Muscular Dystrophy”. Read more

Job opportunities The MCR of the Institute of Myology offers a post-doc position. The European Reference Network (ERN) EURO-NMD is looking for a Project Manager (M/F) and an Assistant Project (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 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. © 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.