Our science & medical news
RSS feedLouise Benarroch wins Elsevier Runner Up Award at WMS 2023 – Interview
Louise Benarroch is a post-doctoral researcher in the “Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology” team led by Gisèle Bonne in the Institute’s CRM. Her latest work on the characterisation of a cellular model for muscle diseases was published* at the end of August, and was also presented at the 28th International Congress of … [Read more]
An overview of the management of mitochondrial diseases in Europe
To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried out among 220 healthcare professionals in 31 European countries. Its findings highlight persistent difficulties: the diagnosis and management of these diseases remain complex and vary from country to country. Comprehensive … [Read more]
22nd meeting of the French network of “Emery-Dreifuss muscular dystrophies and other nuclear envelope pathologies” on November 10
The 22nd French network meeting on “Emery-Dreifuss muscular dystrophies and other pathologies of the nuclear envelope” was held on Friday, November 10, 2023, from 9:15 a.m. to 4:00 p.m., in a hybrid format: face-to-face in the auditorium of the Institut de Myologie and remote via videoconferencing. This one-day event will cover the various aspects of … [Read more]
Institute researchers at the 4th International Imaging in Neuromuscular Disease Conference
The 4th International Imaging in Neuromuscular Disease Conference organized by the MYO-MRI consortium was held in Berlin, Germany, from November 5 to 7, 2023. This conference aims to promote exchanges between radiologists, neurologists, biologists, physicists, engineers and other scientists involved in neuromuscular imaging, focusing particularly, but not exclusively, on MR imaging and spectroscopy. The main … [Read more]
First clinical results of a gene therapy for the treatment of FKRP-related LGMD
The initial results of the ATA-100 gene therapy clinical trial for the treatment of limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9) were presented at the ESGCT congress in Brussels on 27 October. This multicentre Phase 1b/2b trial is designed to assess the safety and efficacy of a gene therapy combining an AAV vector … [Read more]
The French experience of intolerance to ERT in certain patients with Pompe disease
Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of this myopathy, which includes clinicians from the Institut de Myologie, has compiled documented cases of intolerance to ERT using data from the French Pompe disease register: just over 10% of … [Read more]
Identification of a new form of congenital myasthenic syndrome – Interview with Marion Masingue and Stéphanie 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 in the journal Science Reports*. Result of a close collaboration between French scientists including clinicians from the Service of Neuro-Myology and researchers from the Myology Centre for … [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. Communications : Friday 8 September Session 2A Clinical: Motor Neuron Disease Pathogenesis and Treatment Giorgia Querin, MD/PhD – Innovative treatments in NMD: the beginning of a new era? Saturday 9 September Session … [Read more]
Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort
Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. The most common caveolinopathy is due to a deficiency of caveolin-3 and results in an autosomal dominant muscular dystrophy and a very specific rippling phenomenon (muscle undulations on contraction or percussion of the muscle). … [Read more]
Effects of valproic acid on skeletal muscle in two mouse models of DMD
Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more sensitive to contraction-induced functional loss, which is not related to fatigue. Valproic acid (VPA) is thought to improve serological and histological markers of damage in dystrophin-deficient murine muscles. A French study involving researchers from the Institute tested the ability of VPA to reduce … [Read more]
