Newsletter #87

Check the mail online click here

	Newsletter #87

The 26th International Congress of the World Muscle Society, which brings together muscle experts from around the world, was held September 20-24, providing an opportunity to highlight the work of many of the institute’s researchers and clinicians. Save the date! On October 21, at 8:30 p.m., the Casino de Paris will host an exceptional show for the benefit of the Institute of Myology, a research and care center of excellence created by the AFM-Telethon and dedicated to Muscle science and medicine. At the initiative of Laura Arend, dancer and choreographer, and Charlotte Ranson, dancer of the Paris Opera, this ballet, specially designed for this evening, will bring together big names from the contemporary and classical scene, notably Yvon Demol or Marion Montin, around original artistic creations and extracts from famous paintings such as the Parc d’Angelin Préljocaj. > Watch the teaser of the show, directed by Cédric Klapisch > Book your seats quickly on the Casino de Paris website!
At the Institute
The Institute has acquired a state-of-the-art electron microscope Interview with N. B. Romero and S. Vassilopoulos - Electron microscopy is an expertise that has been developed at the Institute of Myology since its creation, resulting from the work by global specialists in electron microscopy. This technique requires years of training, not only to operate the equipment, but also to understand what is being observed. Read more
Assessment of energy metabolism and blood flow by NMR during and after exercise Interview with Alfredo Lopez Kolkovsky, the first author of an article published in the journal Magnetic Resonance in Medicine on the assessment of energy metabolism and blood flow by NMR during and after exercise targeting the calf. Read more
The REDs team supports the International Myotonic Dystrophy Awareness Day The first international awareness day for myotonic dystrophies took place on September 15, 2021. The objective was to highlight these rare diseases to improve diagnosis, care and support, but also to push forward research. Read more
‘Fête de la Science’ – October 5-8 – ‘Les apéros au Labo’ Fancy a special meeting with a scientist? The researchers from the Institute of Myology, Genethon and I-Stem (supported by the AFM-Telethon) will meet you live from their lab as part of the virtual aperitifs of the Fête de la Science. Read more
“1000 researchers in schools” – November 8-December 3 The 9th edition of the scientific information operation for 3rd year and high school students “1000 researchers in schools in France and abroad” will take place between November 8 and December 3. Read more
Upcoming M&M's – Muscle Monday Seminars M&M’s – Muscle Monday Seminars are organized by the Myology Centre for Research, at the Institute of Myology. They are given by videoconference. Next guests: Steve Wilton & Stephen D.R. Harridge. Read more
Our latest news
WMS 2021: Clinicians and researchers from the Institute mobilized for this new edition From September 20 to 24, the 26th International Congress of the World Muscle Society (WMS), brought together muscle experts from around the world, providing the opportunity to highlight the work of many researchers and clinicians at the institute. Read more
When the ERK1/2 pathway disrupts the sarcomere and impairs muscle strength Although the genetic cause of this disorder has been known since the 1990s, the molecular and cellular mechanisms behind loss of strength in these patients remain unclear. Read more
Decrease the time from diagnosis to the start of the treatment with Treatabolome The creation of an open platform drawing up an inventory of all existing treatments for rare genetic diseases, including neuromuscular diseases, is one of the objectives of the European Solve-RD project, which fights diagnostic delay. Read more
DMC related to LMNA: on a large-scale retrospective natural history A retrospective international study coordinated by a team from the Institute of Myology was conducted to describe the natural history of an early-onset form of laminopathy: congenital muscular dystrophy linked to the LMNA gene. Read more
A study by the Institute of Myology has enhanced the phenotypic spectrum due to PLEKHG5 gene mutations In clinical practice, it is not always easy to distinguish between hereditary motor and sensory neuropathy (the prime example being Charcot-Marie-Tooth disease or CMT) and disorders of the lower motor neuron (referenced under different terms such as distal spinal muscular atrophy, distal motor neuronopathy, etc.). Read more
Study of the day-to-day life impact of autoimmune myasthenia gravis from the patient's point of view (MyRealWorld MG) This prospective, observational, digital longitudinal study, lasting 2 years, aims to explore the impact of MG in the day-to-day life of adult patients using data declared by the patients themselves to understand and respond to their own needs. Read more
Analysis of high-throughput digital images reveals distinct patterns of dystrophin expression in patients with dystrophinopathy Researchers have been tackling dystrophin expression using both Western blot and an image analysis platform. automated high-throughput on skeletal muscle biopsies from DMD, BMD and DMD / BMD intermediates. Read more
A review of the involvement of Dynamin 2 in cancers sheds light on a promising therapeutic target Dynamin 2 (DNM2) is a large ubiquitously expressed GTPase, well known for its role in vesicle formation in endocytosis and intracellular membrane trafficking, also acting as a cytoskeletal regulator. Read more
More breaking news
The first Solve-RD report confirms the benefit of an exceptional European research project focusing on rare diseases More than 300 experts from 15 countries, including clinical practitioners, geneticists, patient representatives and researchers, are taking part in the Solve-RD research project, funded by European Union grants over 2018-2022. Read more
Efgartigimod reaches phase III in myasthenia gravis A disorder affecting the neuromuscular junction, autoimmune myasthenia has benefited from relatively intensive therapeutic research for a rare disease, with more than 50 clinical trials in progress or in preparation registered on the ClinicalTrials site as of the end of July 2021. Read more
Myasthenia gravis Myasthenia gravis: immunoglobulins as maintenance therapy? A German study clarifies the risk and contraindications of cardiovascular drugs in Myasthenia gravis Two studies establish links between the gut microbiota and myasthenia gravis Fatigue and sedentary lifestyle go hand in hand in myasthenia gravis Sexual dysfunction more common in myasthenia gravis Myasthenia gravis, a very often painful disease
Inflammatory myopathies Dermatomyositis and polymyositis may be associated with a higher risk of cardiovascular complications A population study quantifies the weight of genes in the occurrence of myositis First prospective study of tofacitinib in refractory dermatomyositis shows encouraging results
Congenital muscular dystrophies Epilepsy: a central symptom in muscular dystrophies associated with LAMA2? A Chinese study on the natural history of paediatric LAMA2 muscular dystrophy
Spinal muscular atrophy Duplications of the SMN1 gene are associated with certain pathologies of the motor neuron STEER: a trial of intrathecal Zolgensma in preparation in type II SMA
Duchenne muscular dystrophy Casimersen examined in a phase I/II trial in limited ambulatory or non-ambulatory DMD patients is well tolerated and eliminated over time A Chinese contribution to the debate on neonatal screening methods in Duchenne muscular dystrophy
Basic research and other disorders Symptom or not, family history or not, hyperCKemia in a girl should lead to search for a muscular dystrophy FKRP-related dystroglycanopathies: preclinical development of autologous cell therapy using a “universal” CRISPR / Cas9 approach The prevalence of non-hereditary rod-shaped myopathy in adults is arguably underestimated It’s not just sarcopenia after 65! Development of an animal model for BIN1-linked centronuclear myopathy provides proof of concept for the efficacy of an antisense oligonucleotide targeting DNM2 Point mutations in the PABPN1 gene in OPMD are no longer the domain of Europe Beneficial effect of gene therapy in model mice of LGMD R1 linked to calpain The existence of variant triplets within the CTG repeats alleviates the severity of Steinert’s disease without affecting the effectiveness of cognitive behavioral therapy PXT3003 in CMT1A : the PREMIER clinical trial starts in France The last congress of the FSHD Society took place on June 24 and 25, 2021 A new mutation in one of the components of the complex IV of the respiratory chain responsible for MELAS syndrome
In brief
DM1 and DM2: Advances in research « Advances in Steinert’s disease » and « Advances in myotonic dystrophy type 2 » are two new documents presenting research news in myotonic dystrophies field : international symposia, ongoing clinical trials or studies, scientific and medical publications… They can be downloaded. Read more
World Duchenne Awareness Day: spread the word September 7, 2021, the 8th World Duchenne Awareness Day was a reminder of the importance of creating opportunities to improve the lives of adults living with Duchenne muscular dystrophy . Read more
14th international conference on Cachexia, Sarcopenia and Muscle Wasting - Dec. 10-12, 2021 This conference will take place in Ljuilbjana, Slovenia, from December 10 to 12, 2021. The deadline for abstract submission will be on the 15th of October 2021. Read more

Newsletter subscription Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientific, medical, political and community news about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.

Also follow our news on social networks

Legal This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chambers; Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2021 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.