Blog Archives
Optimizing therapeutic approach to cure Duchenne Muscular Dystrophy
Team 5 from institute’s Myology Center for Research “RNA-repair based therapeutics & skeletal muscle pathophysiology” is directed by France Pietri-Rouxel. Focused on Duchenne muscular dystrophy, it is involved in translational research: from basic research to clinical trials. Within the team, four thematic groups, which include engineers, technical staff and students, are led by four researchers. … [Read more]
Glycogenoses: information and meeting days for families
Organised during the general assembly of the Association Francophone des Glycogénoses (French Association for Glycogenoses, AFG) families and research stakeholders involved in glycogenoses were brought together over two days. Meetings with families (Rencontres des familles), organised by the AFG on October 22 and 23 in Lyon, allowed researchers, medical teams, reference centres for rare diseases … [Read more]
Generation Telethon at the Institute of Myology
Hospital staff, patients and their families, student visitors, all played the game and let themselves be photographed, dressed in the t-shirt of the year “Generation Telethon”, by the team of the Institute of Myology which realized wild shooting in the margins of the demonstrations. With the breakfast, the sandwich and / or the book, the … [Read more]
“This 30th Telethon launches a generation of finders!”
The 30th Telethon counter displayed €80,319,113 after the 30-hour TV program. But the rallying doesn’t stop now. All week, the 3637 phone line and the telethon.fr website are still open for this great generosity to get bigger, a generosity which has the face of hundreds of thousands of donors and volunteers. This edition marks the … [Read more]
Garou at the Institute of Myology
Garou was welcomed by the researchers of the Institute of Myology during a visit of the laboratories with the ambassador families of Telethon 2016. On 1st of December, Garou, the mentor of Téléthon 2016, came to the Institute of Myology. Accompanied by Laurence Tiennot-Herment, President of the AFM-Téléthon, and the four ambassador families, the Quebec … [Read more]
Institute seminar – 5 December – Dr. Yang Liu (UK)
Influence of Inflammation to the Development of Heterotopic Ossification Following Blast Injury and Amputation Dr. Yang Liu (Wolfson School of Mechanical, Electrical and Manufacturing Engineering, Loughborough University, UK) Monday 5 December 2016 – 12h00-13h00 Host : 12:00-13:00 Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Practical recommendations for diagnosis and management of respiratory muscle weakness in aate-onset Pompe Disease
Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually … [Read more]
Release of the latest newsletter from the Institute
Welcome in the 59th édition of our newsletter! The AFM-Telethon and the ‘Sociétés de Projets Industriels’ SPI (Industrial Projects Companies) investment fund are creating YposKesi, the first French company to develop and produce gene and cell therapy products for rare diseases. This new company aims to make the first treatments available to patients and market … [Read more]
SMA: positive interim data from the CHERISH trial
Positive interim results have been reported for the phase III trial of SpinrazaTM (nusinersen) in children with Type 2 SMA. Following the announcement of the encouraging preliminary results from the ENDEAR (IONIS-CS3B) trial for infants less than 7 months of age with proximal SMA linked to SMN1, Biogen and IONIS Pharmaceuticals have announced positive interim … [Read more]
DUX4-induced constitutive DNA damage in FSHD myoblasts
Facioscapulohumeral dystrophy (FSHD) is one of the three most common muscular dystrophies in the Western world, however, its etiology remains only partially understood. Here, the authors provide evidence of constitutive DNA damage in in vitro cultured myoblasts isolated from FSHD patients and demonstrate oxidative DNA damage implication in the differentiation of these cells into phenotypically-aberrant … [Read more]
