Research Director, team leader
Titles and positions
- INSERM Research Director
- PhD in Developmental Physiology of
- Paris 7 Denis Diderot University
- Genetics and Pathophysiology of neuromuscular diseases
- Muscular dystrophies linked to nuclear envelope defects
- Striated muscle laminopathies
The projects developed in my research group focus on rare neuromuscular diseases, due to genetic mutations in genes encoding nuclear envelope proteins. In particular, we are interested in lamin A/C and their partners responsible for Emery-Dreifuss Muscular Dystrophies (EDMD) and forms of Congenital Muscular Dystrophies (L-CMD) or Limb-girdle Muscular Dystrophy (LGMD).
Our research projects aimed at validating the pathogenicity of new genetic variants identified as part of the patient's diagnostic process, in particular using high-throughput sequencing techniques (NGS). We use cellular models from patients (fibroblast cultures from skin biopsies) as well as animal models that we have developed (mouse models) in order to better understand the pathological mechanisms involved and to test the efficacy of therapies.
- Wahbi, K, Ben Yaou, R, Gandjbakhch, E, Anselme, F, Gossios, T, Lakdawala, NK et al.. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. 2019;140 (4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. PubMed PMID:31155932 .
- Azibani, F, Brull, A, Arandel, L, Beuvin, M, Nelson, I, Jollet, A et al.. Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. Mol Ther Nucleic Acids. 2018;10 :376-386. doi: 10.1016/j.omtn.2017.12.012. PubMed PMID:29499949 PubMed Central PMC5862133.
- Ben Yaou, R, Hubert, A, Nelson, I, Dahlqvist, JR, Gaist, D, Streichenberger, N et al.. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurol Genet. 2017;3 (6):e208. doi: 10.1212/NXG.0000000000000208. PubMed PMID:29264399 PubMed Central PMC5735306.