The mechanisms underpinning progressive stenosis of internal carotid arteries bifurcations and abnormal angiogenesis, the two main features of moyamoya angiopathy (MMA), are unknown. We and others have identified several MMA causative genes. These data strongly suggest that RAS/MAPK, Nitric Oxide and RNF213 pathways are involved in MMA. However, most MMA genes are yet unknown. Development of MMA cellular and animal models are also urgently needed. Our first objective is to identify MMA missing genes using high through put technologies and network-based computational approaches. Our second ongoing objective is to develop a good MMA mouse model using GUCY1A3 and RNF213 mutants.
Chaker AlouiRead Bio
Chaker Aloui received a Bachelor's degree in Medical Biotechnologies from the University of Monastir, Tunisia in 2010 and a PhD from the University of Saint-Etienne in France. He currently serves as a Computational Genomics Scientist at INSERM in the GenMedStroke team headed by Professor Elisabeth Tournier-Lasserve. His research focuses on the identification of novel genes and pathways involved in cerebrovascular diseases, mainly in cerebral small vessel diseases (CSVDs) and moyamoya angiopathies. Chaker is combining various pan-genomic approaches with statistical methods on big-data issued from high throughput sequencing. His areas of expertise include medical genetics, rare disease, burden tests, exome and genome sequencing, RNA-seq, and bioinformatics.
Florence Riant, PharmDRead Bio
Florence Riant is PharmD. She works as a molecular geneticist at the Saint-Louis Hospital in Paris, in the Neurovascular Molecular Genetics Department of Prof. Tournier-Lasserve. She has set up the technical tools for the sequencing of genes responsible for neurological diseases. In particular, she performs molecular diagnosis of cerebral vascular pathologies such as cerebral cavernoma and moyamoya disease.
Gwenola Boulday, PhDRead Bio
Gwenola Boulday obtained her Ph.D. in immunology at University of Nantes, France. She did her postdoctoral fellowship at Boston Children’s Hospital, in David Briscoe Lab. In 2006, she joined Élisabeth Tournier Lasserve’s lab in Paris. There she developed and characterized several mouse models of Cerebral Cavernous Malformations that Were used in proof-of-concept preclinical trials. Recently she started a new project with the aim of defining the first mouse model of the Moya Moya angiopathy.