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SMA-PAR, a study of the parenthood experience of parents of children with SMA conducted by Sophie Boursange

Sophie Boursange, psychologist at I-Motion, is currently carrying out research in human and social sciences within the department, under the supervision of Prof. M. Gargiulo, clinical psychologist and Professor of psychology at the University of Paris. This research aims to describe the subjective experience of parents and to analyze the impact of the disease on … [Read more]

The institute is recruiting a Clinical Research Physician

Located in Paris in the heart of the largest European hospital, the Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Téléthon, a patient’s organization. Its objective is to promote the recognition and development of myology as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic … [Read more]

M&M’s – Muscle Monday Seminar – 29 March – R. Jude Samulski (USA)

AAV Gene Therapy for Duchenne Muscular Dystrophy- a 25 Year Journey  Monday 29 March 2021 – 16:00-17:00 Prof. R. Jude Samulski (UNC School of Medicine, Department of Pharmacology,  Professor – President, Chief Scientific Officer and Co-Founder of Askbio) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar … [Read more]

ERN EURO-NMD webinar, 1 April: Melanie Quintana

Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN   Thursday 1 April 2021 – 4:00 am (Paris time)   Modeling disease progression in GNE myopathy   Melanie Quintana, PhD, Senior Statistical Scientist at Berry Consultants   You may register here: https://aim.zoom.us/webinar/register/WN_5LBXfwhxTVydKwnbjhc6Iw

Muscular dystrophies with collagen-VI deficiency: predictive indices of the long-term phenotype?

Collagen VI myopathies (or collagenopathies VI) represent a group of muscular dystrophies whose clinical expression ranges from severe and early forms of infancy (congenital muscular dystrophy of Ullrich) to relatively benign forms ( Bethlem myopathy, LGMD R22 or D5), passing through many intermediate forms. The collagen VI deficiency, a key protein of the extracellular matrix, … [Read more]

Laure de Pontual winner of the 2020 Master Prize awarded by the SFM

Laure de Pontual was awarded the Masters 2020* prize by the French Myology Society (SFM). This prize was a reward for her excellent academic record, her work in the 2nd year of her Masters in the field of myology, and as an encouragement for her proposed thesis that she presented on 20 January 2020, during … [Read more]

M&M’s – Muscle Monday Seminar – 8 March – Abigail Mackey (Denmark)

Human skeletal muscle from the cellular perspective in vivo and in vitro Monday 8 March 2021 – 12:00-13:00 Abigail Mackey (Department of Biomedical Sciences, University of Copenhagen, Denmark) Hosted by Vincent Mouly On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Abigail Mackey

DMD: start at I-Motion of a gene therapy trial using a microdystrophin designed by Genethon in collaboration with Sarepta Therapeutics

The gene therapy used in this trial combines an AAV-type viral vector and a shortened version of the dystrophin gene, the microdystrophin, designed by researchers and experts from Genethon – a laboratory funded by AFM-Telethon – in collaboration with the team of Prof. George Dickson (University of London) and the team of Caroline Le Guiner … [Read more]

Study of long, non-coding RNA in a cohort of Becker muscular dystrophy patients: Applicability to the design of the exons 45-55 skipping therapeutic strategy for DMD

Elena Gargaun, MD, PhD in cellular and molecular biology, has been working in the “Gene therapy for DMD & pathophysiology of the skeletal muscle” team at the Institute of Myology for her thesis: “Genotype and phenotype characterisation of Becker muscular dystrophy patients with deletion of exons 45-55”, under the supervision of France Piétri-Rouxel. Her work, … [Read more]

The muscle, an essential partner… in vaccination!

The COVID-19 vaccination campaign is being discussed everywhere. It raises multiple questions, but do we know why vaccines, and in particular messenger RNA vaccines, have to be injected intramuscularly (into the muscle)? Here, we help you understand how the muscle optimises vaccination efficacy. Whether it’s a vaccine for COVID-19, the flu or hepatitis B, the … [Read more]