Blog Archives
Institute seminar – October 8th – Luis Garcia (France)
Tricyclo-DNA : Conception d’oligonucléotides antisens pour le traitement de certaines maladies neuromusculaires par modulation d’épissage Monday 8 October 2018 – 12:00-13:00 Pr. Luis GARCIA (Directeur U1179 UVSQ-INSERM, Handicap Neuromusculaire : Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil, Université de Versailles St. Quentin-en-Yvelines, France) Host : Vincent Mouly Institute of Myology auditorium … [Read more]
Potential pathogenic role of anti-SRP and anti-HMGCR antibodies in IMNM
Idiopathic inflammatory myopathies (IIM) are a group of acquired autoimmune disorders that mainly affect the skeletal muscle tissue. Classification criteria of IIM are comprised of polymyositis, dermatomyositis, inclusion body myositis and immune-mediated necrotizing myopathies. One important hallmark of autoimmune diseases is the detection of autoantibodies in patient sera. The anti-SRP (signal recognition particle) and anti-HMGCR … [Read more]
Release of the 69th newsletter from the Institute
After a long break for the summer holidays, welcome to the latest issue of our newsletter! The Great Family Celebration was an opportunity to look back on 60 years of struggles and victories, and to celebrate advances in research, rights and support for the patients. The kick-off of the Telethon 2018 has also been … [Read more]
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
This case report describes an 18-year-old man with a history of intellectual disability, dysmorphic features diabetes mellitus type 1, and thyroiditis related to an 18p deletion (18p-) syndrome. He developed progressive left leg muscle weakness/atrophy that suggested an inflammatory myopathy. The patient carried an 18p deletion, two potentially permissive 4qA alleles, and marked D4Z4 (sized … [Read more]
The institute will participate in the Science Fair on 13th & 14th October
For this new 2018 edition of the French science fair, “Fête de la Science”, researchers at the institute offer you to follow step by step the different techniques used to bring new knowledge on the field of muscle and to create the therapies of tomorrow. Where ? Village des Sciences Sorbonne Université 4 place Jussieu … [Read more]
A French first in cardiac surgery for Duchenne and Becker myopathies
A left ventricular assist device was implanted in two patients with myopathy (Duchenne and Becker), with refractory heart failure and not eligible at this stage for transplantation. In May 2018, Dr. Denis Duboc’s team implanted a left ventricular assist device in two patients, aged 20 and 40, with myopathy (Duchenne and Becker), refractory heart failure … [Read more]
DMD: I-Motion includes patients in the phase I trial of a new molecule
Dr. Teresa Gidaro is the principal investigator for France in the multicentre, WAVE trial that launched in June at I-Motion. This phase I international trial also includes sites from the United Kingdom, the United States and Belgium, where Laurent Servais is the principal investigator at his site in Liège. What is the new molecule investigated … [Read more]
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy
Myotonic dystrophy (MD), the most common inherited myopathy, is associated with high cardiovascular mortality. A preliminary analysis of the DM1 Heart Registry, a comprehensive database that captures information relative to the cardiac management of adults presenting to our center with MD, revealed a high prevalence of venous thromboembolism (VTE). Clinicians from the Institute of Myology … [Read more]
Postdoctoral position available at the Institute of Myology
A postdoctoral position is available in the team of Gisèle Bonne (Myology Centre for Research) in the context of a research project supported by MD-UK aiming at the identification of potential genetic modifiers modulating the diseases severity of LMNA-congenital muscular dystrophy and related striated muscle laminopathies using multi-omics approaches. The team has a long standing … [Read more]
Urinary titin: a non-invasive biomarker for DMD?
Early detection of Duchenne muscular dystrophy (DMD) by mass screening may enable the early treatment of these patients. Here, the authors report that urinary titin concentration, an indicator of severe muscle wasting, is a diagnostic biomarker for DMD. Urinary titin concentrations were measured in healthy 3-year-old children and, by comparison with concentrations in 4 DMD … [Read more]
