Blog Archives
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]
Development of a checklist for clinical trials in rare disease
Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Over the past years, there have been initiatives to facilitate the process of international study set-up, but the fruits of … [Read more]
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, the authors chose the stem-loop RNA structure TSL2, which overlaps with the 5′ … [Read more]
Institute seminar – June 18th – Giulio Cossu (UK)
Cell-mediated exon skipping for DMD: why it may work Monday 18 June 2018 – 12:00 Giulio Cossu, MD, FMedSci (Constance Thornley Professor of Regenerative Medicine, Division of Cell Matrix Biology & Regenerative Medicine, Faculty of Biology, Medicine and Health, University of Manchester., Manchester Academic Health Science Centre, UK) Host : Gill Butler-Browne Amphi Charcot … [Read more]
Treating dermatomyositis with ruxolitinib
A French team has confirmed the link between the activation of interferon 1 (IFN) and the onset of dermatomyositis, and have demonstrated the efficacy of an interferon 1 inhibitor in 4 people with this disease. People with dermatomyositis have abnormal levels of IFN in the blood and muscles. A link between the activation of IFN … [Read more]
