Our science & medical news
RSS feedImproving diagnosis and prognosis in DM1 and other short repeat expansions diseases with LRS – Interview with Stéphanie Tomé
Stéphanie Tomé is a researcher in the Gourdon group within the Repeat Expansions & Myotonic Dystrophy (REDs) team at the Institute’s Center of Research in Myology. She organised the 2nd Long-Read Sequencing of Expanded Tandem repeats workshop, which was held in Paris from 30 September to 2 October 2024. During this workshop, European and North … [Read more]
Towards a new therapeutic approach to cardiovascular complications in progeria?
Hutchinson-Gilford syndrome (HGPS or progeria) is an autosomal dominant disease caused by a mutation in the LMNA gene, coding for type A lamins, which results in a truncated form of pre-lamin A called progerin. Although asymptomatic at birth, patients develop symptoms such as accelerated ageing, growth retardation and loss of vascular smooth muscle cells (VSMC) … [Read more]
The Institute’s researchers and clinicians attend the 29th WMS Congress
The 29th International Congress of the World Muscle Society (WMS) will be held from 8 to 12 October 2024 in Prague, Czech Republic. The Institute of Myology will be very well represented there, with many scientific and clinical experts present to discuss clinical and fundamental research issues. Denis Furling (CRM) will present an oral communication. … [Read more]
ERDERA, a European partnership ushering in a new era in rare disease research – Interview with Dr Gisèle Bonne
The European Research Alliance for Rare Diseases (ERDERA) is a European partnership that aims to improve the lives of millions of rare disease patients in Europe – and beyond – by advancing research into the prevention, diagnosis and treatment of rare diseases. Supported by the European Union and the Member States as part of Horizon … [Read more]
A unique microscopy technology has revealed previously unknown mechanisms of endocytosis in the axon – Interview with Stéphane Vassilopoulos
Satish Babu Moparthi, post-doctoral fellow, and Stéphane Vassilopoulos, co-director of the ‘Muscle cell organization and therapy of dominant centronuclear myopathy‘ team at the Research Centre of the Institute of Myology, have just published an article in the journal Science* in collaboration with Christophe Leterrier’s team (Aix-Marseille University, CNRS). Using a combination of two cutting-edge technologies, they … [Read more]
The Fondation Leducq has recently awarded funding to the PRIORITY international network of excellence, coordinated by Dr Gisèle Bonne.
The PRIORITY international network of excellence has just been awarded an $8,000,000 grant from the Fondation Leducq. PRIORITY is a research consortium of 8 partners, 4 from Europe and 4 from North America*, which will work on LMNA gene-related dilated cardiomyopathy (LMNA-DCM). PRIORITY will be coordinated by Dr Gisèle Bonne (Institut de Myologie, France) and … [Read more]
The relationship between muscle strength and function in the upper limb now better established in DMD and SMA
Researchers coordinated by the Institute of Myology have studied the threshold of muscle strength loss beyond which motor function is compromised in the hand: 91 patients with Duchenne muscular dystrophy (DMD) and 77 with SMN1-related proximal spinal muscular atrophy (SMA) took part in the study, hand grip strength and thumb-index grip strength were measured using … [Read more]
A comparison focusing on thymic histology between different cohorts of myasthenia gravis
Researchers at the Institute of Myology used a French database to compare early-onset (217) and classic forms of myasthenia (721): the files from this database were analysed clinically, immunologically and histologically (data from examination of the thymus when it had been removed), juvenile forms of myasthenia were subdivided into two groups according to age of … [Read more]
Does thymectomy have harmful long-term consequences?
A retrospective study recently published in the New England Journal of Medicine has raised the question of an increased long-term risk, in terms of cancer, autoimmune disease and mortality, after thymectomy as part of cardiothoracic surgery. In Neurology, international specialists in myasthenia (including a researcher from the Institute of Myology) and cardiothoracic surgery review what … [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]
