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. Using this method, mutations in the Activity Dependent-Neuroprotective Homeobox Protein (ADNP) gene have been discovered, contributing to a neurogenetic syndrome called Helsmoortel-Van der Aa syndrome (OMIM 615873), with a prevalence of 0.2% of global autism cases. Despite a wealth of information, many aspects of the genetic and biochemical brainfunctions of ADNP remain unknown.
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 completed by a patient community gathering of families with the Helsmoortel - Van der Aa syndrome. This 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.
The scientists and clinicians will also integrate with the parent community of the Helsmoortel - Van der Aa syndrome, discovered in the Kooy lab (Cognitive Genetics, Center of Medical Genetics, UZA/UA) and named after the PhD student at that time and tending clinician of our research group. This syndrome was selected because the Helsmoortel - Van der Aa syndrome has attracted a fair amount of attention from the scientific and patient community. Following our initial characterization that mutations in ADNP are the molecular cause of this syndrome, published in Nature Genetics in 2014, this gene has been identified as one of the most frequent causes of a neurodevelopmental disorder in subsequent screening studies with 100% disease penetrance. This disorder has thus become one of the prime examples of translational research among any neurodevelopmental disorder. Over the last years, it has become evident that rare disease patient organizations, in our case the ADNP research foundation, need to be involved in the road towards targeted therapies from the first steps onwards. By updating the parents on the latest state of the art, this aspect of the translational route commences with this meeting.