Blog Archives
A look back at the 4th International Meeting on Laminopathies
The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases, representatives of the pharmaceutical industry, as well as laminopathy patients and patient organisations from around the world. The meeting welcomed 166 participants from 24 countries. By providing a forum for … [Read more]
Towards better recognition of AINM in children
On the occasion of the diagnosis of a case of autoimmune necrotizing myopathy (AINM) in one of their patients, two Japanese physicians provide an update on this infrequent and therefore poorly understood pathology in paediatrics: an exhaustive and critical analysis of the literature enabled them to identify 33 cases of AINM in patients under the … [Read more]
Anti-SAE autoantibodies in dermatomyositis
Dermatomyositis (DM) is a rare autoimmune family of diseases in which the muscles and skin are affected by inflammation. They can occur in childhood or in adults. The autoimmune aspect of these diseases is associated in 60% of patients with the presence of DM-specific antibodies, among which the anti-SAE antibody is rare. In a retrospective … [Read more]
Cognitive profile and treatment in SMA type I
A study reveals for the first time the effects of three available treatments for SMA on the cognitive profile of infants with SMA type I: 18 infants participated in the study, 11 SMA type I treated post-symptomatically and 7 presymptomatically, 11 received Spinraza, three received Evrysdi and four received Zolgensma, In the presymptomatically treated infants, … [Read more]
Role of caveolae in T-tubule formation in the muscle cell – Interview with Eline Lemerle and Stéphane Vassilopoulos
Eline Lemerle completed her thesis* under the supervision of Stéphane Vassilopoulos, in Marc Bitoun’s team (Muscle Organization & Therapy of Dominant Centronuclear Myopathy) at the Institute’s Myology Centre for Research. Her work on the formation of T-tubules in the muscle cell and more specifically on the role of caveolae, has just been published in the … [Read more]
Is dystrophin in plasma a new biomarker for DMD?
European researchers have demonstrated the presence of dystrophin in the plasma of patients with Duchenne muscular dystrophy (DMD): Using two antibodies specifically directed against dystrophin, fragments of this protein were found in the plasma of DMD patients, unlike in healthy subjects, DMD transmitters or patients with other neuromuscular diseases whose plasma did not contain any. … [Read more]
18th meeting of the East Parisian MNM Reference Centre: PMA and parenthood – 23 June
The Reference Centre for Neuromuscular Diseases of Eastern Paris is organising its 18th meeting on the theme: Medically Assisted Reproduction and Parenthood – Clinical, Legal and Cultural Aspects. The meeting will take place on Friday 23 June 2023 – 9:00 am – 4:30 pm in the amphitheatre of the Institute of Myology. This event is … [Read more]
Base editing, under investigation in SMA
Two teams investigated the base editing technique to convert the SMN2 gene into the SMN1 gene: in cell models of SMA, the exchange of the different base of exon 7 of the SMN2 gene was successful (with minimal “off-target”), In SMA mouse models, SMN protein production is increased and motor function is improved, the life … [Read more]
M&M’s – Muscle Monday Seminar – 22 May – Michael Snyder (USA)
Transforming Healthcare Using Deep Data and Wearables May 22nd, 2023 – 16:00 – 17:00 Michael Snyder (USA, Stanford Medicine – Stanford University Chair, Dept. of Genetics (2009 – Present) ; Director, Center for Genomics and Personalized Medicine (2009 – Present)) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > More information on the presentation … [Read more]
NOTCH2NLC gene study in a large cohort of patients with CMT disease
Charcot-Marie-Tooth disease (CMT) is very heterogeneous both phenotypically and genetically. Japanese researchers studied 1783 CMT patients without a molecular signature and applied a sequencing technique called long-read: 26 patients belonging to 22 families had a pathological nucleotide expansion located in the NOTCH2NLC gene, this gene is known to give a distal oculo-pharyngeal myopathy, the authors … [Read more]
