Our science & medical news
RSS feedDiseases related to BAG3: a common variant associated with a more severe form
This is the largest study conducted in Europe on the initiative of clinicians at the Institute of Myology, involving 26 patients with mutations in the BAG3 (BCL2-associated athanogene 3) gene, which are very rare. The c.626C>T p.(Pro209Leu) variant, carried by 16 patients, causes motor impairment of the lower limbs or heart failure from childhood onwards. … [Read more]
Antibodies to MuSK CRD are pathogenic in a mouse model of myasthenia gravis
Myasthenia gravis (MG) is caused by autoantibodies directed mainly against the acetylcholine receptor (AChR) or the MuSK receptor tyrosine kinase located at the neuromuscular junction. Several studies have reported immunoreactivity against the Frizzled cysteine-rich domain (CRD) of MuSK in patients, although the pathogenicity of the antibodies involved remains unknown. A collaboration involving several teams from … [Read more]
MoCo MRF T1-FF: a new approach to accurately assess upper body muscle tissues using NMR despite respiratory motion
Over the last decade, MR Fingerprinting (MRF) has emerged as an effective paradigm for the rapid and simultaneous quantification of several parameters using MRI. This method was adapted in 2020 by the NMR Laboratory – Spectroscopy Laboratory at the Institute of Myology to measure parameters that are interesting biomarkers in neuromuscular disorders: water T1 as an … [Read more]
Proteomics as an alternative to muscle biopsy
European researchers, including two from the Institute of Myology, report on progress in serum biomarkers for Duchenne muscular dystrophy (DMD): classical markers, such as creatine phosphokinase, myoglobin and lactate dehydrogenase, are still valid but have serious limitations, biomarkers derived from mass spectrometry studies now provide important and very often reliable information, particularly in cases of … [Read more]
GenoTher Summit 2025: Shaping the Future of Gene Therapy together
GenoTher Summit 2025, the first symposium organised by the GenoTher biocluster, was held on 11 June 2025 at the GĂ©nocentre in Ăvry-Courcouronnes. It brought together more than 350 key players in the gene therapy ecosystem for a day of scientific exchange and strategic reflection. More than 20 international experts from France, the United States, the … [Read more]
Exploring the infinitely small – Interview with StĂ©phane Vassilopoulos
An expert in cell biology and molecular biology, StĂ©phane Vassilopoulos is co-director of the âMuscle cell organization and therapy of dominant centronuclear myopathyâ team at the Institute’s Center of Research in Myology. Seeking to understand why and how the alteration of certain muscle proteins leads to dysfunction and then disease, he and his team have … [Read more]
Seeing our muscles in action – Interview with Constantin Slioussarenko
Constantin Slioussarenko, an engineer by training, is a researcher in the NMR and Spectroscopy Laboratory, co-directed by Harmen Reyngoud and Benjamin Marty, at the Neuromuscular Investigation Center. The team works on neuromuscular diseases that affect all the muscles in the body, and whose progression can be fairly heterogeneous, making it difficult to monitor their progress … [Read more]
Building the Muscle Atlas – Interview with Bruno Cadot
Bruno Cadot is head of research in the âSignalling pathways and striated musclesâ team led by Antoine Muchir at the Center of Research in Myology . His work has led him to make extensive use of imaging to study muscle and to collaborate with the Institute’s Morphological unit*, which produces and studies sections of patient … [Read more]
A model to predict the distance covered during the 6MWT in Pompe disease
Researchers from the Laboratory of Physiology and Neuromuscular Evaluation at the Institute of Myology have developed and validated predictive models for the performance of the 6-minute walk test (6MWT) in Pompe disease, using simpler, less demanding tests. In fact, the 6MWT, which is commonly used to assess functional capacity in neuromuscular diseases, can prove difficult … [Read more]
The Institute’s teams at the 5th International Meeting on Laminopathies from 21 to 23 May in Paris
The 5th International Meeting on Laminopathies, being held in Paris from 21 to 23 May, brings together international experts in nuclear envelope proteins and associated diseases, including muscular dystrophies, cardiomyopathies, accelerated ageing syndromes such as Hutchinson-Gilford progeria and metabolic disorders. This meeting, which gathers together cardiologists, neurologists, endocrinologists, paediatricians, geneticists, researchers and patients, aims to … [Read more]
