Blog Archives
Recovery of cervical trophoblasts for non-invasive prenatal diagnosis
The authors of this study aimed to develop a method to recover trophoblastic cells from the cervix through a completely non-invasive approach and obtain a genetic proof of their foetal nature, which would imply that they could be used for non-invasive prenatal diagnosis (NIPD). Obstetrical samples from 21 pregnant women between 8 and 12 … [Read more]
The French National Academy of Medicine decorates Professor Michel Fardeau
On December 15, Prof. Michel Fardeau received the Grand Medal of the French National Academy of Medicine from Jean-François Allilaire, Assistant Secretary of the Academy. He was honoured for his outstanding career that has been entirely devoted to the biology and pathology of muscle. By creating an institute specific to muscle and its pathology at … [Read more]
Institute seminar – 18 January – Dr Frédérique Coppée (Mons, Belgium)
Cytoskeleton and DUX 18 January 2016 – 12:00-13:00 Dr Frédérique Coppée (Mons University, Mons, Belgium) Host : Gisèle Bonne (Team 1, Myology Center for Reasearch, Institute of Myology) Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Gene editing with CRISPR/Cas9 corrects genetic defect that triggers DMD
The breakthrough genome editing tool known as CRISPR (clustered regularly interspaced short palindromic repeats) has been used by three separate research groups to treat postnatal Duchenne Muscular Dystrophy (DMD) mice. To correct DMD by skipping mutant dystrophin exons in postnatal muscle tissue in vivo, the investigators used adeno-associated virus-9 (AAV9) to deliver the CRISPR/Cas9 system … [Read more]
Institute seminar – 11 January – Prof. Frances M. Brodsky (London, UK)
The human side of membrane traffic and metabolism in muscle 11 January 2016 – 14:30-15:30 Professor Frances M. Brodsky, DPhil FMedSci (Director Division of Biosciences, University College London, UK) Host : Stéphane Vassilopoulos (Team 2, Myology Center for Reasearch, Institute of Myology) EXCEPTIONELLY, the seminar will be held at : Brain & Spine Institute (ICM) auditorium … [Read more]
Identification of a novel titinopathy
In this study, the authors aimed to identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. They performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but for which mutations in the gene had been excluded. The identification of a … [Read more]
A review of non-DMD muscle disorders identified by prior DMD screening programs
Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require early diagnosis for effectiveness. Elevated creatine kinase levels in the neonatal period are the initial screening marker in DMD newborn screening programs but is found … [Read more]
Promise for future therapeutic targets to treat DMD
Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus preventing … [Read more]
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive motor neuron disease affecting children. It is caused by mutations in the IGHMBP2 gene (11q13) and presently has no cure. Recently, adeno-associated virus serotype 9 (AAV9)-mediated gene therapy has been shown to rescue the phenotype of animal models of another lower … [Read more]
Dominant spinal muscular atrophy is caused by mutations in BICD
Spinal muscular atrophies (SMAs) are characterised by degeneration of spinal motor neurons and muscle weakness. Autosomal recessive SMA is the most common form and is caused by homozygous deletions/mutations of the SMN1 gene. However, families with dominant inherited SMA have been reported, for most of them the causal gene remains unknown. Recently, studies have … [Read more]
