Webinare

From oral function assessment to cleft lip and palate care and family experiences, this webinar offers practical insights for healthcare professionals and patient communities alike. Chaired by Pr Sally Lynch

Europe is made up of many different populations both indigenous to Europe and those that migrated in over the centuries. Differing barriers in healthcare access means that rare and ultra rare disorders may cluster within some of these populations. Some have unique cultural norms that may differ from the general population or may face more […]

Welcome and Introduction Interpreting the impact of noncoding structural variants in neurodevelopmental disorders – Finding causes of missing heritability in neurogenetic disorders: exploring the dark matter of the genome Enhancer hijacking: A key driver of congenital disorders Non-coding genome in limb malformations Discussion time Conclusion with speakers and moderator 

Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND represents the number one concern to families worldwide, yet is highly under-identified and under-treated. In this webinar, we introduced the concept of TAND and […]

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 […]