Blog Archives
Our 2023 Annual Report is online
In 2023, the Institute continued its dynamic transformation and the deployment of its strategy to support research and innovation. It was also a key year for the emergence of muscle as a public health issue. We all share the same ambition: to support patients throughout their care pathway and to develop strong synergies to bridge … [Read more]
The Danish MuskelsVindfonden association visits the Institute
On Friday 31 August, 56 people from the Danish association MuskelsVindfonden, the Danish equivalent of AFM-Téléthon, visited the Institute of Myology. They were welcomed by Olivier Stephan and Valérie Decostre and were able to visit a laboratory. This Danish delegation from the MuskelsVindfonden association, made up of employees and volunteers from the association, was in … [Read more]
DM1: Setting up a cognitive remediation group – Interview with Sabrina Sayah and Thibaud Guillopé
Sabrina Sayah and Thibaud Guillopé are clinical psychologists specialising in neuropsychology in the Psychology and Neuropsychology team at the Institute of Myology. They presented their clinical work at the Neuroscience DMU Day held at the ICM on 22 June. Their poster having been selected, T. Guillopé was able to give an oral presentation of the … [Read more]
Congenital myopathy linked to the STAC3 gene is a frequent cause of early hypotonia in South Africa
South African researchers report the clinical and biological data from a cohort of 127 young children with congenital hypotonia: they had been previously excluded for SMA and Prader-Willi syndrome, the homozygous variant identified in STAC3 by high-throughput DNA sequencing in 31 children is the same as that found in patients from Africa, additional haplotyping studies … [Read more]
A higher incidence of AINM in the New Zealand population of Polynesian origin
Clinicians report a large and growing number of cases of autoimmune necrotising myopathy (AINM) in New Zealand: 40 new cases of HMGCR autoantibody-positive AINM were diagnosed over a two-year period (2019-2021), all were in people aged over 40 who had been exposed to cholesterol-lowering statins, the calculated incidence was found to be five times higher … [Read more]
Advances in Charcot-Marie-Tooth disease – June 2024
Charcot-Marie-Tooth disease is a group of genetic diseases that cause damage to the peripheral nerves (nerves that connect the spinal cord to muscles and sensory organs) of the arms and legs (neuropathy). It is also known as hereditary motor and sensory neuropathy (HMSN). Common symptoms are muscle weakness and wasting in the legs (feet and … [Read more]
Differential circulating microRNA profiles in several subtypes of inflammatory myopathies
Italian researchers have studied extra-cellular vesicles (EVs) present in the bloodstream and containing several types of very small messenger RNA: in particular, microRNAs (miRNAs) and RNAs that interact with the piwi protein (piRNAs) were measured, the plasma of 47 patients with different types of myositis was analysed and compared with the plasma of 45 healthy … [Read more]
What is the relevant level of motor function change in DMD?
Given the relative failure of a certain number of therapeutic trials, an international consortium of specialists in Duchenne muscular dystrophy (DMD), in collaboration with the AFM-Téléthon in particular, has examined the motor trajectories in this pathology: to this end, they gathered data and clinical assessments from more than 1,000 DMD patients, in the context of … [Read more]
Prenatal exposure to the AAV9 adeno-associated virus carries some risk
American researchers wanted to find out whether exposing a foetus to AAV9 during pregnancy could be envisaged: in vivo experiments were carried out on lamb foetuses, the product used was a GFP gene contained in a type 9 AAV, administered either intracranially or via the umbilical vein, at 75 days gestation, tissue expression of the … [Read more]
“1000 chercheurs dans les écoles” education campaign – 12th edition
Over the past 11 years, more than 411,000 pupils from 3ème to Terminale, in mainland France and abroad (this operation also takes place throughout the year for French schools abroad), have been able to meet a scientific expert from a laboratory supported by the AFM-Téléthon, to gain a better understanding of genetics, rare diseases, cell … [Read more]
