Blog Archives
Etienne Klein at the Institute’s Ethics Meetings – 25th September
As part of the Institute of Myology’s Ethics Meetings, the Think Tank in Applied Ethics presents: INNOVATION AND PROGRESS “Do our discussions about innovation do justice to the idea of progress?” Speaker, Etienne Klein Research Director at the CEA and Doctor of Philosophy of Science Discussant, Yves Agid Neurologist, University … [Read more]
The dystrophin Dp116 coding region is associated with cardiac involvement in DMD
Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the DMD gene. Although DMD is characterized by fatal progressive muscle wasting, cardiomyopathy is the most important non-muscle symptom threatening the life of patients with DMD. The relationship between cardiac involvement and dystrophin … [Read more]
Overexpression of mutant FKRP restores functional glycosylation and improves dystrophic phenotype in FKRP mutant mice
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 (MDDGA5), muscle-eye-brain (MDDGB5) with or without cognitive deficit, to limb-girdle type 2I (MDDGC5). Phenotypic variation indicates degrees of functionality of individual FKRP … [Read more]
A novel MRI-based algorithm to help diagnose and differentiate inherited myopathies presenting with spinal rigidity
Inherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures. In this multi-centre, retrospective study that included 79 patient, the authors aimed to present a decision algorithm based on muscular whole body magnetic resonance imaging (mWB-MRI) as a unique … [Read more]
Targeted NGS strategy for the diagnosis of myopathies and muscular dystrophies
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with >100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology has revolutionized M-MD diagnosis and revealed high frequency of TTN and NEB variants. Here, the authors have developed a next-generation sequencing diagnostic strategy targeted to the coding sequences … [Read more]
Reduced regenerative capacity of CD133+ cells derived from DMD skeletal muscles
Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy (DMD). Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from … [Read more]
AFM-Telethon International call for projects focused on Bioproduction breakthrough in gene therapy technologies
AFM-Téléthon is pleased to announce the launching of its first international call for proposals for Research Projects on Bioproduction Breakthroughs in Gene Therapy Technologies. This call will open June 4th 2018 to any project aimed at initiating, optimizing or translating disruptive research toward large-scale production of gene therapy viral vectors (notably AAV, lentivirus…), with emphasis … [Read more]
Institute seminar – July 2nd – Paul T. Martin (USA)
GALGT2 gene therapy for Duchenne Muscular Dystrophy – A translational research journey Monday 2 July 2018 – 12:00 Paul T. Martin, Ph.D. (Professor of Pediatrics, Professor of Physiology and Cell Biology, The Ohio State University College of Medicine, Principal Investigator, Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, Associate Director, NIH Center … [Read more]
Cells of Matter – In Vitro Models for Myotonic Dystrophy
Denis Furling’s team (Pathophysiology & Biotherapy of Myotonic Dystrophy, Myology Centre for Research, Institute of Myology) has just published a review on relevant cellular models to study Myotonic dystrophy type 1. Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cognitive … [Read more]
A big Family Fest: register quickly!
Are you affected by a neuromuscular disease? Join us on September 15th to celebrate the 60th anniversary of the AFM-Téléthon. A rich program is in store. If you are affected by a neuromuscular disease, come and celebrate the 60th anniversary of the AFM-Téléthon at the big Family Fest and share a day rich in emotion … [Read more]
