Institute events
RSS feedThe Neuropathies Rehabilitation Summer School
The Neuropathies Rehabilitation Summer School, organised under the auspices of the ERN EURO-NMD, took place in Rome from 18 to 21 September 2023. Its main aim was to disseminate knowledge about current and future rehabilitation methods for rare and complex neuropathies. Clinicians and researchers from the Institute have given talks or lectures: Monday 18 September … [Read more]
Our Annual Report 2022 is online
2022 was a particularly eventful year, with the development of strategic cross-functional projects, the creation of a team to accelerate our digital transformation, the strengthening of our quality tools, and growth in our activities, particularly in adult clinical trials. Finally, a major step was taken in the deployment of our Foundation ambition, with the signing … [Read more]
International Myotonic Dystrophy Awareness Day on September 15
15 September 2023 marks the third International Myotonic Dystrophy Awareness Day, aimed at highlighting these rare diseases in order to improve diagnosis, care and support, as well as advancing research. The REDs team of the Myology Centre for Research of the Institute of Myology led by Geneviève Gourdon and Denis Furling, which also includes Guillaume … [Read more]
The 2023 edition of the “1000 researchers in schools” operation
The 2023 edition of the “1000 researchers in schools” operation will run from 6 November to 8 December. During this period, speakers from laboratories supported by the AFM-Téléthon (Institut de Myologie, Généthon and I-Stem) will be visiting secondary schools across France to explain and popularise advances in research and the medical and scientific revolution underway, … [Read more]
7 September is International Duchenne Muscular Dystrophy Awareness Day
The 10th World Duchenne Muscular Dystrophy Day, on 7 September, is a call to action to break down the physical, social and healthcare barriers faced by the 250,000 people worldwide affected by this disease. With the theme “Duchenne: breaking down the barriers”, the day dedicated to raising awareness of Duchenne muscular dystrophy aims to encourage … [Read more]
ERN EURO-NMD webinar, 14th Sept. – Prof. Dr. Anders Oldfors (Sweden)
Mitochondrial Myopathies 14th September 2023 – 4pm Paris time Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University Hospital, Sweden) Registration: https://zoom.us/webinar/register/WN_NndKEIeKQDSdxkFvlKWgJw Organised by EURO-NMD in collaboration with ERN-RND.
A history of myology in Europe
In an article published in July 2023, an Italian researcher traces the origins and evolution of myology. This medical science of muscle and its diseases has developed over time, not only due to the advent of tools and technologies that improve our knowledge of muscle, but also due to the international collaborations that punctuate its … [Read more]
Newborn screening for primary carnitine deficiency can also detect mothers with few symptoms
Two publications on neonatal screening (NNS) for primary carnitine deficiency, which has recently been added to the panel of diseases screened at birth in France, have highlighted that : Australia was the first country to carry out NNS for this disease, in 1998, Asia is the continent with the highest incidence, the French program’s working … [Read more]
Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort
Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. The most common caveolinopathy is due to a deficiency of caveolin-3 and results in an autosomal dominant muscular dystrophy and a very specific rippling phenomenon (muscle undulations on contraction or percussion of the muscle). … [Read more]
Review of the 2023 session of the Myology Summer School
Andoni Urtizberea reviews the 2023 session of the Summer School of Myology, which was held from 12-16 June 2023 in a hybrid version. This was the 25th edition of this summer school created by the Institute of Myology. What was the number of participants this year? We had 50 registered participants, 22 face-to-face and 28 … [Read more]
