Webinars

This webinar was the second of a webinar series dedicated to Angelman syndrome, a neurogenetic disorder. In this session we’ve focused on how Angelman syndrome presents in clinical practice.  Experts Dr. Karen Bindels-de Heus and Dr. Ana Roche discussed key topics, including seizures, movement disorders, behavioral concerns, sleep disturbances, and more.   You can consult the […]

You can consult here the webinar’s powerpoint.

Coffin-Siris syndrome (CSS) is a relatively frequent syndrome with developmental or cognitive delay, classically characterized by small or missing nails,and distinctive facial appearance, among several other signs. Since the discovery of mutations in ARID1B, a component of the BAF chromatin remodelling complex, as the main cause of the syndrome, our knowledge on diagnosis, natural history and management […]

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 […]

You can consult HERE the webinar’s powerpoint.

Program Welcome and Introduction, by Pr. Laurence Faivre, Centre de Génétique, Dijon (France) Topic 1 – Presentation of 4 European genomic NGS pilot projects in Europe Topic 2 – The Rare Barometer survey on the opinion of people living with a rare disease on NBS, by  Jessie Dubief, Social Research Director, EURORDIS Webinar recordings Main recording starting from […]

Dowload the webinar’s powerpoint HERE.

Download the webinar’s powerpoint HERE.

Download HERE the webinar’s powerpoint.