Blog Archives
Institute seminar – November 13th, 12:00 – Kathrin Meyer (USA)
In vitro modeling and gene therapy for neurodegenerative disorders Monday November, 13th 2017 – 12:00 Kathrin Meyer, PhD, Research Assistant Professor (Research Institute Nationwide Children’s Hospital, Ohio State University, Columbus, OH, USA) Host : France Pietri Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Institute seminar – November 13th, 10:30 – Nicolas Wein (USA)
Making sense of nonsense: Moving toward an unusual therapeutic strategy for DMD Monday November, 13th 2017 – 10:30 Nicolas Wein, PhD, Research Assistant Professor (Center for Gene Therapy Nationwide Children’s Hospital WA 3106, 700 Children’s Dr 43205 Columbus, OH, USA) Host : France Pietri Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 … [Read more]
Rapid targeted genomics in the neonatal and pediatric intensive care setting
Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of this … [Read more]
Institute seminar – November 17th – Erin Englund, PhD (USA)
Quantitative MRI for assessment of skeletal muscle perfusion, peripheral vascular dynamics, and muscle oxygen consumption Friday November, 17th 2017 – 16:30 – 17:30 Erin Englund, PhD (Laboratory for Structural, Physiologic and Functional Imaging (LSPFI), Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA) Host: Pierre Carlier Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building … [Read more]
Once again, 1000 researchers in schools!
From November 6th to December 1st, scientific experts, supported by the AFM-Téléthon, will meet students in high schools and colleges in France and abroad, as part of operation “1000 researchers in schools”, in partnership with the Biology and Geology Teachers’ Association (APBG). At the initiative of the AFM-Téléthon, the 5th edition of the “1000 researchers … [Read more]
Focal myositis: An unknown disease
Focal myositis are inflammatory muscle diseases of unknown origin. Contrary to the other idiopathic inflammatory myopathies, they are restricted to a single muscle or a muscle group. They are not associated with extramuscular manifestations, and they have a good prognosis in the absence of treatment. They are characterized by localized swelling affecting mostly lower … [Read more]
Collagen VI-related congenital muscular dystrophies: restoring normal collagen VI
A research team has succeeded in re-expressing normal collagen VI in cellular models of collagen VI-related myopathy. Abnormalities in one of the COL6 genes, COL6A1, COL6A2 or COL6A3 are at the origin of myopathies such as Ullrich congenital muscular dystrophy and Bethlem myopathy. These abnormalities lead to the absence or abnormal production of collagen VI, … [Read more]
Presentations and outcomes of juvenile dermatomyositis patients admitted to intensive care units
Juvenile dermatomyositis (JDM) may be complicated by life-threatening conditions requiring paediatric ICU (PICU) management. Here, the authors report on a retrospective study of JDM patients admitted to two French hospital PICUs, describing the causes, treatment and outcomes of these severe, little-known complications in order to improve their management. They found that primary JDM vasculopathy-related … [Read more]
MTMR2 as a novel therapeutic target for myotubular myopathy
Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy. Here, the authors … [Read more]
Efficacy of tadalafil in slowing ambulatory decline in DMD
This Phase 3 randomized trial tested the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD). The primary efficacy measure was 6-minute walk distance (6MWD) after 48 weeks. Secondary efficacy measures included North Star Ambulatory Assessment and timed function tests. … [Read more]
