Our science & medical news
RSS feedDMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein essential for muscle function, dystrophin. There is currently no effective treatment, but gene therapy trials using micro-dystrophins have been underway for several years. These strategies, targeting both skeletal and cardiac muscle, are applicable to all … [Read more]
Pierre Klein wins prestigious MSCA scholarship for post-doctoral project
Pierre Klein is a senior post-doctoral fellow in the Repeat expansions & Myotonic Dystrophy (REDs) team led by Denis Furling. He is the recipient of a highly prestigious MSCA fellowship from the European Commission for his EpiDM project: ‘Uncovering the role of the m6A epitranscriptome in Myotonic Dystrophy Type 1 (DM1)’. Interview with Pierre Klein. … [Read more]
Chiara D’Ercole, a post-doctoral student at the Institute, is the winner of a prestigious MSCA fellowship
Chiara D’Ercole, a post-doctoral fellow in the Signalling pathways & striated muscles team led by Antoine Muchir, has been awarded the highly prestigious MSCA grant from the European Commission for her GLI-AGE project: Role of glial cells in age-related muscle sarcopenia and NMJ-disfunction. Interview with Chiara D’Ercole. What is your background? I defended my thesis … [Read more]
Two post-doctoral fellows from the Institute awarded prestigious MSCA grant
For the 3rd year running, the European Commission has awarded the highly prestigious Marie Skłodowska-Curie Actions (MSCA) grant to two post-doctoral researchers from the Institute of Myology. Chiara D’Ercole and Pierre Klein applied for and won this highly competitive grant with the support of the Institute’s Grants Office [link]. This highly valued fellowship for young … [Read more]
LGMD and Pompe disease in the NGS era
Next-generation sequencing (NGS) performed between 2017 and 2018 in 2,372 patients from 21 countries with recessive limb-girdle muscle weakness revealed that: 225 had limb-girdle myopathy and 36 had Pompe disease; dysferlinopathy (LGMD-R2) was the most common (26.44%), calpainopathy (LGMD-R1) came second (23.37%), Pompe disease third (13.8%) and sarcoglycanopathy (LGMD-R6) was the rarest (a single case … [Read more]
Late dysferlinopathy presenting as generalized permanent myalgia
The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up. Muscle biopsy revealed a marked decrease in … [Read more]
The difficulty of interpreting SMCHD1 gene variants in FSHD
Clinicians and geneticists from the French network dedicated to facioscapulohumeral muscular dystrophy (FSHD), which includes clinicians from the Institut de Myologie, have provided an update on a rarer form of FSHD type 2 linked to the SMCHD1 gene: the sequencing data and methylation studies of 54 FSHD1-negative patients were collected and analysed, all patients had … [Read more]
Retrospective study of the Institute of Myology’s muscle biopsies in infants
A retrospective study of 535 muscle biopsies taken over 52 years from infants aged between 0 and 6 months and collected at the Institut de Myologie showed that : 82% of them showed abnormalities specific to a neuromuscular disease; between 1970 and 1999, 11.6% of biopsies (out of 248) were normal, compared with 4% (out … [Read more]
ENTRY-DM: a European network to train a new generation of young DM1 researchers – Interview with Mario Gomes-Pereira
ENTRY-DM is an MSCA* multidisciplinary doctoral network aimed at developing oligonucleotide-based therapies and preparing clinical trials in myotonic dystrophy, through advanced doctoral training. It brings together 11 European laboratories and 18 international partners with expertise in disciplines as varied as medicinal chemistry, genetics, multi-omics, bioengineering and neuropsychology. Interview with the project coordinator, Mario Gomes-Pereira, a … [Read more]
The first digital functional assessment tool validated in DMD
The international consortium of researchers, including experts from the Institute of Myology, which developed SV95C, a digital parameter for the functional evaluation of Duchenne muscular dystrophy (DMD), has announced its adoption by the European Medicines Agency (EMA) as a primary endpoint in therapeutic trials: this assessment is based on the analysis of information transmitted by … [Read more]
