Blog Archives
Lipid nanoparticles to improve gene editing in mice
Genome editing using CRISPR-Cas9 methodology mediated by an adenovirus-associated virus (AAV) has shown its effectiveness in mice but comes up against the impossibility of repeating injections of the viral vector. Japanese researchers have successfully overcome the obstacle of anti-AAV neutralizing antibodies by using a non-viral vector: lipid nanoparticles with low immunogenic power make it possible … [Read more]
About the economic interest of the compassionate use of innovative treatments
Italian researchers and a Roche laboratory representative jointly analyzed the economic impact of compassionate use protocols for some innovative health products: two of the eleven protocols studied concerned infantile spinal muscular atrophy (SMA) and risdiplam in particular, the others were linked to cancer and multiple sclerosis, the SMA protocols respectively concerned children with type 1 … [Read more]
The Institute of Myology is recruiting a Data Project Manager
The Institute of Myology Located in Paris, at Pitié-Salpêtrière Hospital, the largest public hospital in Europe, the Institute of Myology was created in 1996 by AFM-Téléthon, a patient association. The Institute’s goal: promoting the field of Myology and forming it into a medical and scientific discipline in its own right. The Institute of Myology coordinates … [Read more]
AcadeMYO 2022: July 11-13, 2022
Save the date! The next session of AcadeMYO, the institute’s myology summer school, will be held from July 11 to 13, 2022, Registrations will open in April. Since last year, the summer school has been organized entirely online and allows foreign students or students from the French overseas departments and territories to follow a condensed … [Read more]
A book to explain Duchenne muscular dystrophy to affected children
The team from the Marseille Neuromuscular Reference Centre has designed a small book for children with Duchenne muscular dystrophy (DMD). This didactic and abundantly illustrated work was given to nine children with DMD and their parents, within a variable period of time after the announcement of the diagnosis. Its usefulness has been the subject of … [Read more]
A pilot experiment in neonatal screening for primary carnitine deficiency
Chinese clinicians from Fujian province screened 49 cases of primary carnitine deficiency at birth using a biochemical technique (tandem mass spectrometry). This neuromuscular condition is indeed treatable by lifelong carnitine supplementation administered orally. In this study: screening involved 548,247 children born in the province between 2014 and 2021, the additional genetic tests following the confirmation … [Read more]
CAP2: a new gene responsible for nemaline myopathy
American researchers have identified, for the first time, a pathogenic variant of the CAP2 gene present in a heterozygous state in a sporadic form of nemaline myopathy. The child presented with neonatal onset hypotonia and, above all, very severe dilated cardiomyopathy: the CAP2 gene encodes a cyclase-binding protein (cyclase-associated-protein type 2), functional studies have confirmed … [Read more]
Back to the 26th Journées of the Francophone Society of the Peripheral Nerve
The 26th “Journées of the Francophone Society of the Peripheral Nerve” took place on January 21 & 22, 2022 at the New Cap Event Center in Paris. They brought together 240 participants, health professionals, clinicians, researchers on cross-cutting themes from nerve to muscle. New therapeutic targets in neuromuscular diseases, and in particular in autoimmune myasthenia … [Read more]
Myobank-AFM ’s quality certification is renewed for 3 years
Myobank-AFM, the Research Tissue Bank of the Institute of Myology, is a non-profit service involved in the collection, preparation, storage and distribution of human tissue samples, primarily from people with neuromuscular or rare diseases but also healthy subjects. This center of biological resources is intended for the exclusive use of research and this, in respect … [Read more]
ERN EURO-NMD webinar, Feb 3rd: Pr Cornelia Kornblum (Germany)
An introduction into mitochondrial diseases in adulthood Thursday February 3rd, 2022 – 16:00-17:00 (Paris time) Pr Cornelia Kornblum (Bonn University/Universitary Clinic of Bonn, Germany) “Mitochondrial Disorders Thematic Month” Webinar organised by EURO-NMD.
