Blog Archives
Gastrointestinal manifestations of Pompe disease: confirmation of smooth muscle involvement
Pompe disease is an inherited disease linked to the dysfunction of a lysosomal enzyme involved in the physiological glycogen breakdown. Transmitted on an autosomal recessive mode, it results in overload myopathy which can also affect the heart, mainly in infants. Enzyme replacement therapy (ERT) significantly changed the course of the disease, especially in children. Gastrointestinal … [Read more]
DMOP: a Dutch study specifies the evolutionary profile of the disease
Oculopharyngeal muscular dystrophy (or OPDM) is a relatively rare myopathy transmitted on an autosomal dominant mode. It results in the gradual onset, as a rule from the age of fifty, of a progressive and bilateral eyelid ptosis, swallowing disorders and, very often, a muscle deficit of the pelvic girdle. The progression of symptoms is slow … [Read more]
M&M’s – Muscle Monday Seminar – 11 October – Steve Wilton (Australia)
Antisense oligomer induced spliceoform switching: from Duchenne muscular dystrophy to common serious inherited and acquired diseases Monday October 11th 2021 from 12am to 1pm. Steve Wilton (Director, Centre for Molecular Medicine and Therapeutics at Murdoch University, Australia, Director, Perron Institute for Neurological and Translational Science) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr … [Read more]
Functionally repaired DMD heart cells with Crispr-Cas9
A team of American researchers has treated lines of induced pluripotent stem cells taken from a patient with Duchenne muscular dystrophy (DMD) with a deletion of exon 44 of the DMD gene with Crispr-Cas9. The aim was to restore the reading frame or to skip exon 45. From the two iPS cell lines obtained, they … [Read more]
Better known risks of Zolgensma
Zolgensma® (onasemnogene abeparvovec) is the first gene therapy product to obtain marketing authorization in 2019 in a neuromuscular disease, namely SMA. Various serious side effects have been reported with this product: hepatotoxicity, transient thrombocytopenia, cardiac disorders, thrombotic microangiopathy… An exhaustive analysis of data from preclinical studies, clinical trials (around 100 patients with SMA in total) … [Read more]
‘Fête de la Science’ – October 5-8 – ‘Les apéros au Labo’
The operation, organized each year by the Ministry in charge of Education, Research and Innovation, aims to allow everyone to discover the world of science and meet the women and men who do science today. It will take place virtually this year. From October 5 to 8, the AFM-Telethon will offer interactive discussion sessions with … [Read more]
Release of the 87th newsletter from the Institute – September 2021
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 … [Read more]
ERN EURO-NMD webinar, September 30: Jana Zídková (Czech Republic)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN. Thursday September 30, 2021 – 16:00-17:00 (Paris time) NGS results and CNV detection in Czech patients with neuromuscular disease Jana Zídková (University Hospital Brno, Centre of Molecular Biology and Genetics, Czech Republic) Inscription : https://aim.zoom.us/webinar/register/WN_keB6QugCQ12vZPWUJRHFzw
The Institute has acquired a state-of-the-art electron microscope
Interview with Norma B. Romero and Stéphane Vassilopoulos Since July 2021, researchers, doctors and engineers/ technicians from the Institute of Myology have been learning to use the different functions of the new state-of-the-art transmission electron microscope that the Institute has just acquired. While all the teams at the Myology Research Centre and the Institute’s Morphology … [Read more]
The REDs team supports the International Myotonic Dystrophy Awareness Day
Today, September 15, 2021, marks the first International Myotonic Dystrophies Awareness Day. Objective: to highlight these rare diseases to improve diagnosis, care and support, but also to push forward research. Euro-DyMA, a federation of ten European patient associations, of which the AFM-Telethon belongs, through the Steinert interest group, and the American association Myotonic Dystrophy Foundation, … [Read more]
