Isabelle Richard’s team works on muscular dystrophy. These progressive neuromuscular diseases are disabling, and sometimes fatal, without treatment to slow or halt progression of the disease.
The team’s researchers
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IsabelleRichard
Team leader Research Director CNRS, co-founder Atamyo Therapeutics
PhD
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Expertise: human genetics, gene therapy, muscle physiology et pathophysiology
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DavidIsraeli
Researcher
PhD
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Expertise: Duchenne Muscular Dystrophy, muscle physiopathology, gene therapy
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SoniaAlbini
Researcher
PhD
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Expertise: neuromuscular diseases (DMD), pluripotent stem cells, epigenetic disease modeling
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AnthonyBrureau
Researcher, project coordinator
PhD
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AiVu Hong
Researcher, project coordinator
PhD
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Spécialités : gene therapy,Duchenne Muscular Dystrophy, virology
The team’s projects
The team is developing several lines of research:
- Study of the pathophysiological mechanisms of the diseases of interest
- Assessment of approaches based on in vivo delivery of viral vectors (AAV, for adeno-associated virus) and genome editing
- Improvement of gene transfer strategies
- Identification of diagnostic and prognostic markers
- Participation in the genetic or clinical evaluation of patients
After having established the proof of concept, several of the teams’s approaches are now in the clinical development phase, in particular for the treatment of girdle myopathies.
Among recent publications, a detailed understanding of the interactions between titin and calpain makes it possible to analyze the cardiac toxicity observed in preclinical studies.
Recent publications
- Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I. Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation. 2013 Sep 3;128(10):1094-104. doi: 10.1161/CIRCULATIONAHA.113.001340. Epub 2013 Aug 1. PMID: 23908349.
- Gicquel E, Maizonnier N, Foltz SJ, Martin WJ, Bourg N, Svinartchouk F, Charton K, Beedle AM, Richard I. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. Hum Mol Genet. 2017 May 15;26(10):1952-1965. doi: 10.1093/hmg/ddx066. PMID: 28334834; PMCID: PMC6251615.
- Morin A, Stantzou A, Petrova ON, Hildyard J, Tensorer T, Matouk M, Petkova MV, Richard I, Manoliu T, Goyenvalle A, Falcone S, Schuelke M, Laplace-Builhe C, Piercy RJ, Garcia L, Amthor H. « Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle » Proc Natl Acad Sci 2023 U S A 120, e2206324120.
- Vu Hong A, Suel L, Petat E, Dubois A, Le Brun PR, Guerchet N, Veron P, Poupiot J, Richard I « An engineered AAV targeting integrin alpha V beta 6 presents improved myotropism across species » Nature communications 2024 15, 7965
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