Our science & medical news
RSS feedA tool to evaluate cardiac risk in patients with mitochondrial disease – Interview with Karim Wahbi
Prof. Karim Wahbi, a cardiologist, has just published the results of an international study that he coordinated with his “Registries and databases” team at the Institute. The article relates to the prediction of cardiac consequences (complications) in adult patients with mitochondrial diseases*. What is the background to your conduct of this work? We have been … [Read more]
One word to describe the congress “Myology 2022”
Intriguing, friendly, fast-paced, cross-disciplinary… it’s not easy to sum up the 7th edition of the Myology Congress organized by the AFM-Telethon in a single word. Discover the answers of the researchers who took up the challenge! Myology 2022 is over! During 4 days, researchers, clinicians and experts in myology were able to exchange on the … [Read more]
ERN EURO-NMD webinar, Sept. 22nd : Prof. Costanza Lamperti (Italy)
Mitochondrial Genetics Thursday September 22nd, 2022 – 16:00-17:00 (Paris time) Prof. Costanza Lamperti (lstituto Neurologico C.Besta, Milan, Italy) Please register here to attend the webinar Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.
Myology 2022: opening session
On Monday, September 12, took place the opening session of the 7th edition of the international congress Myology 2022 was held with Laurence Tiennot-Herment, president of AFM-Telethon, and the co-presidents of the event, Elisabeth McNally, a specialist in cardiac muscle, and Shahragim Tajbakhsh, a specialist in muscle biology.
ACTA1 gene-related nemaline myopathies: an international study to clarify phenotypes
Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated by the Institute of Myology of Paris collected data on ten new cases of this myopathy. The phenotype was globally very severe with an early onset and a high lethality. … [Read more]
Foundation of Myology : call for scientific applications
Join the future Foundation to better understand and treat the muscle in every condition. Why a Foundation of Myology? Myology has grown in France, notably through the creation of the Institute of Myology, the establishment of regional myology centers, the creation of the Filnemus health networks and the French Myology Society, all of which … [Read more]
DM1: RNA toxicity alters astrocyte morphology, adhesion and migration – Interview with Mario Gomes-Pereira
Mario Gomes-Pereira and his team* have just published a paper in Nature Communications** on the toxicity of mutant RNA that alters the morphology, adhesion and migration of astrocytes in mice and humans with myotonic dystrophy type 1 (DM1). Interview with Mario Gomes-Pereira. What is the background to this work? DM1 is a neuromuscular disease … [Read more]
The first participant with FSH was included in the REACH phase III trial of losmapimod
The oral drug losmapimod has been shown to slow the progression of facioscapulohumeral myopathy (FSH) in the phase II ReDUX4 trial. The phase III trial of losmapimod will evaluate its safety and efficacy over a 48-week period. The trial is randomised, double-blind and placebo-controlled and is expected to enrol 230 adult participants with FSH1 or … [Read more]
The Institute’s clinicians and researchers in force at the ICNMD 2022 conference in Brussels
The International Congress on Neuromuscular Diseases (ICNMD) was held in Brussels from 5 to 9 July 2022. The Institute of Myology was very well represented, both in terms of clinical and fundamental research. Prof. Bertrand Fontaine, Dr. Giorgia Querin as well as Marc Bitoun and Piera Smeriglio, team leaders at the Institute’s Myology Research Centre, … [Read more]
Impact of frontal lobe damage on social dysfunction in DM1
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease that affects muscular and extra-muscular systems, including the central nervous system. Brain damage in DM1 is associated with subtle cognitive and behavioural disorders, with a major impact on socio-professional adaptation. This French study, involving clinicians from the Institute of Myology, included 28 adult patients … [Read more]
