An ongoing research project to collate genotypic and phenotypic information about SYT1-associated neurodevelopmental disorder, and elucidate neurodevelopmental mechanisms, is underway, led by Dr Baker (Cambridge, UK) and Dr Gordon (Melbourne, Australia). Information about the study is available here, or feel free to contact us via email: https://www.mrc-cbu.cam.ac.uk/bing
Expected results within the next 12 months will be a larger case series of variants and phenotypic variation. Expected results within the next 5 years will be a mechanistic understanding of the disorder at the cellular and neural systems level.
The ultimate goal is to identify mechanism-informed treatment options, either via evidence-based selection of existing drugs, repurposing, or novel therapeutics. We hope to support individualized management for each patient informed by their mutation, their symptoms, understanding of the linking mechanisms, and the concerns and wishes of the patient and their family. A family forum is available here: https://www.rareconnect.org/en/community/SYT1