Neurodevelopmental disorders represent a large and heterogeneous group of disorders. Individual types of neurodevelopmental disorders with known genetic aetiology are typically rare, owing to the very high number of individual genes that are causative for such conditions, but their aggregate societal impact is dramatic. While massive screening studies have cumulated in the discovery of over a thousand genes that are involved in intellectual disability (ID) and/or autism spectrum disorder (ASD), our molecular and functional understanding of the pathophysiology of these genes is lagging far behind. The development of whole exome sequencing (WES) has substantially increased our insights into the genetic causes of neurodevelopmental disorders by detection of de novo mutations by comparing the protein-coding part of the DNA of the child to that of its parents.
This meeting will bring together scientists and clinicians involved in genetic disease identification, characterization, and treatment, with ADNP gene function as the central focus. The scientific conference is complemented by a patient community day. The scientific conference will appeal to PhD students, post-docs, clinicians, and PI professors working in the field of the Helsmoortel-Van der Aa syndrome. The primary purpose of workshops is to enhance communication between scientists, specifically on various aspects of the ADNP function. For instance, from a more technological perspective or rather a clinical perspective. The second primary purpose is to integrate junior and senior investigators. Young scientists will have the opportunity to present their work in the format of short talks after selection from submitted abstracts. The program has also allocated ample time at the end of each session for exchanging ideas and discussing novel hypotheses, as well as time for informal interactions and networking.
