Published on January 22, 2025
ERN-ITHACA Webinar

This webinar focused 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.

Program:

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

HERE to dowload the webinar’s powerpoint

Recording

https://youtu.be/xlxLbfdLyKU