Our science & medical news
RSS feedA Marie Sklodowska-Curie European fellowship for Gabriele Ordazzo, postdoc researcher at the Institute
The European Commission has awarded Gabriele Ordazzo, a postdoctoral researcher supervised by Mario Gomes-Pereira (Repeat Expansions & Myotonic Dystrophy team – Gourdon Group), with the prestigious Marie Skłodowska-Curie Actions (MSCA) Individual Fellowship. He follows in the footsteps of Fiorella Grandi supervised by Piera Smeriglio (Biotherapies for motor neuron disorders team), who has been awarded the … [Read more]
Engineering muscle for human transplant – Interview with Bruno Cadot
Bruno Cadot won a call for proposals organised by the German National Innovation Fund (SPRIN-D) to finance his innovative project to create a synthetic muscle, combining chemistry and biology. Now that proof of concept has been achieved in mice, the next step is to make the transition to human transplants. Interview with Bruno Cadot. … [Read more]
The Institute of Myology gives guidelines for physical activity in neuromuscular diseases
In a contribution to Médicosport-santé© published on the vidal.fr website, researchers and clinicians from the Institute of Myology report on what is known about physical activity in neuromuscular diseases: they have analysed the literature over the last 30 years and give recommendations for training by disease group (muscular dystrophies, idiopathic inflammatory myopathies, metabolic myopathies, mitochondrial … [Read more]
The Institute of Myology, partner in the European Dreams project – Interview with Stéphane Vassilopoulos
Dreams (Drug REpurposing and Artificial intelligence for Muscular disorderS) is an innovative project funded under a European call for tenders for 5 years, with the aim of developing an innovative methodology combining AI, stem cells and pharmacological screening to identify treatments for 5 muscular disorders. It is coordinated by Dr Xavier Nissan, Director of Research … [Read more]
A focus on complex cases of autosomal dominant titinopathies
An international consortium of researchers coordinated by a team of geneticists from Montpellier and including researchers and clinicians from the Institute is reporting the clinical and biological data of patients diagnosed with primary titinopathy on the basis of more sophisticated investigations (including the RNA-seq technique): 17 patients corresponding to eight families were included in the … [Read more]
RhoA is a key regulator of myoblast fusion
Satellite cells (SCs) are adult muscle stem cells that are recruited when muscle homeostasis is disturbed. The RhoA GTPase is an important signalling enzyme involved in the rearrangement of the actin cytoskeleton and in the differentiation of myoblast lines. A team from the Institut Cochin in collaboration with researchers from the Institute’s Myology Research Centre … [Read more]
CMT 4J: heterogeneous clinical pictures where electrophysiology is not always sufficient for diagnosis
Mutations in the FIG4 gene are responsible not only for Charcot-Marie-Tooth (CMT) 4J disease, but also for amyotrophic lateral sclerosis and Parkinson disease. In this article, involving clinicians from the Institut de Myologie, published in November 2023, of the eight patients described, six had pure CMT and two had CMT associated with Parkinson disease; three … [Read more]
Gene therapy for gene-based myopathies: review of the literature and prospects
Gene therapy has emerged as a promising avenue in the search for effective treatments for patients with gene-based myopathies. This review of the dedicated scientific literature, carried out by two clinicians from the Institute of Myology, explores the use of viral vectors and in particular recombinant adeno-associated virus (rAAV) vectors as powerful tools for gene … [Read more]
Treatment of thymoma with immune checkpoint inhibitors increases the risk of muscle toxicity
An analysis of various registries and clinical trial data, carried out by an international team involving researchers from the Institute of Myology, revealed: 1,495 cases of myocarditis with immune checkpoint inhibitors in the World Health Organization’s VigiBase registry, a rare (around 1%) but potentially serious adverse event, a 10- to 30-fold greater risk of ICI … [Read more]
Myotubular muscular dystrophy: trial results show efficacy on respiratory and motor function, but challenges remain
Yesterday, The Lancet Neurology published the clinical results of a gene therapy trial conducted by Astellas Gene Therapies, using a drug candidate developed at Genethon, in 24 children suffering from myotubular myopathy, a very severe muscle disease. This international trial, which is taking place in 6 investigating centres around the world, including I-Motion, the Institut … [Read more]