Institute events
RSS feedERN 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]
M&M’s – Muscle Monday Seminar – 1st March – Werner Stenzel (Germany)
Myositis associated with connective tissue disease: The classic ones – Antisynthetase Syndrome – The less well studies ones – Scleromyositis Monday 1 March 2021 – 12:00-13:00 Werner Stenzel (Department of Neuropathology, Charité – Universitätsmedizin, Berlin, Germany) Hosted by Olivier Benveniste On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on … [Read more]
International Women in Science Day
On the occasion of the International Women in Science Day, we would like to pay tribute to all of our Institute researchers and clinicians, and to congratulate them on their work and contributions to advances in research and care in the field of neuromuscular diseases. We are proud to have nearly 2/3 of female talent … [Read more]
M&M’s – Muscle Monday Seminar – 15 Feb – WhiteLab Genomics
Data intelligence for cell & gene therapies development Monday 15 February 2021 – 12:00-13:00 WhiteLab Genomics (Company specialized in the development of an Artificial Intelligence platform dedicated to the field of genomic medicine, France) Hosted by Marc Bitoun On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar … [Read more]
