Blog Archives
LRSAM1 variants and founder effect in French families with ataxic form of CMT2
Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. A team of clinicians aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. They collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French … [Read more]
The Myology Centre for Research opens a postdoctoral position
The team “Repeat Expansions & Myotonic Dystrophy” led by D. Furling at the “Centre de Recherche en Myologie, UMRS974” (Sorbonne Université, Inserm) located within the “Institute of Myology” in Paris (France) opens a postdoctoral research scientist position in the area of skeletal muscle biology. Research topics of the team are focused on Myotonic Dystrophy type … [Read more]
Causes and consequences of miR-150-5p dysregulation in myasthenia gravis
Autoimmune Myasthenia gravis (MG) is a chronic neuromuscular disease mainly due to antibodies against the acetylcholine receptor (AChR) at the neuromuscular junction that induce invalidating muscle weaknesses. In early-onset MG, the thymus is the effector organ and is often characterized by B-cell infiltrations leading to ectopic germinal center (GC) development. The microRNA miR-150-5p has been … [Read more]
Institute seminar – 11 June – Bernard Brais, MD PhD (Canada)
Disturbances of calcium homeostasis in the Strongman syndrome Monday 17 June 2019 – 12:00-13:00 Bernard Brais MD PhD (Neurogenetician, McGill Universtity, Montreal Neurological Institute, Canada) Host : Capucine Trollet Stomatology Amphitheatre Hôpital de la Pitié-Salpêtrière Entrance 82 bd Vincent Auriol metro Chevaleret
Release of the 73rd newsletter from the Institute
2024 Institute of Myology strategic project Welcome to our 73rd newsletter. A historic first: on May 24, the Food and Drug Administration approved Zolgensma®, a gene therapy drug for the treatment of spinal muscular atrophy. This is the first gene therapy authorized for a neuromuscular disease. In France, an agreement was reached … [Read more]
A historic first: FDA approved gene therapy for a neuromuscular disease
On May 24, the Food and Drug Administration approved Zolgensma®, a gene therapy drug for the treatment of spinal muscular atrophy developed by AveXis (Novartis). Genethon, the AFM-Telethon laboratory, played a decisive role in the design of both the product and the route of administration of this first gene therapy for a neuromuscular disease, thanks … [Read more]
Gene therapy: towards a clinical trial for LGMD2C
Isabelle Richard’s team, a CNRS researcher in an Inserm unit at Genethon, has demonstrated the efficacy of gene therapy and determined the effective dose for treating a rare muscle disease, gamma-sarcoglycanopathy, in mouse models of the disease. Based on these encouraging results, published in Molecular Therapy – Methods and Clinical Development, the researchers are preparing … [Read more]
Spinraza®: coverage for all SMA type 1,2,3 patients
An agreement was reached between the Biogen laboratory and the French state that allows access to medicine for all concerned patients. Concerning the management of Spinraza®, the first innovative therapeutic medicine offered to patients with spinal muscular atrophy. This agreement gives access to medicine for all patients concerned by type 1,2 and 3 spinal muscular … [Read more]
An international, prospective study on the natural history of X-linked myotubular myopathy
An article published in April in Neurology reports the work of a team of international experts including I-Motion clinicians and researchers from the Institute of Myology. The authors designed an international, prospective and longitudinal study of the natural history of patients with X-lined myotubular myopathy. Interview with Melanie Annoussamy, the first author of the article. … [Read more]
A day in honor of Gillian Butler-Browne
A day was organized in honor of Gillian Butler-Browne, renowned researcher, for her official retirement. On March 29th of this year, the Myologie Institute brought together eminent scientists from around the world, who are also some of her close friends. The event was held the next day after Myology 2019, and although most researchers were … [Read more]
