Our webinar will focus on elucidating neurodevelopmental disorders caused by deleterious variants in the human RAC1 and RAC3 genes, including intellectual disability, autism spectrum disorders and epilepsy. These genes encode proteins that are crucial for brain development by regulating cell signalling pathways involved in neuronal migration, differentiation and synaptic function. In this webinar, we’ll explore the biological functions of RAC1 and RAC3, the mechanisms underlying the disruption of normal neurodevelopment in humans, and the clinical features seen in affected individuals. We will discuss current research, diagnostic insights and potential therapeutic strategies for these rare but impactful genetic conditions.
Chaired by Valeria Capra, MD
Public : genetists, clinical genetists and biologists involved in rare neurodevelopmental disorders.
- Welcome and Introduction
- Speaker : Valeria Capra, MD – Genomic and Clinical Genetics, IRCCS G.Gaslini, Genoa, Italy.
- Rho family GTPases: key players in neuronal development and synaptic function – Speaker : Antonio Falace, PhD – Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini”, Genoa, Italy.
- RAC3-related disorders of cortical development in human neurodevelopmental phenotypes – Speaker : Marcello Scala, MD PhD “NeuroRacopathies – Department of Neurosciences (DINOGMI), University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
- Mechanistic analysis of RAC1-related neurodevelopmental disorders – Speaker : Tom H. Millard, PhD – Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.
- Discussion & Conclusion with speakers and moderator
Contact PM: anne.hugon@aphp.fr
Registration here:Microsoft Virtual Events Powered by Teams