Second International SYNGAP1 Symposium

Baylor College Of Medicine, Houston TX

Investigators

Abstract

Project Summary Mutations in the gene encoding SYNGAP1 result in a devastating neurodevelopmental disorder including intellectual disability, epilepsy and autism. Since this disorder was first identified less than a decade ago, little is known about its natural history, and there are no targeted therapies. The prevalence of pathogenic mutations in SYNGAP1 is approximately 1% of all individuals with intellectual disability making it as common as more intensely studied neurodevelopmental disorders such as Rett and Fragile X Syndrome. This is due in part to the recent discovery of SYNGAP1 related disorder thus making it less well studied. Our goal with the 2nd International SYNGAP1 Symposium is to build upon the momentum started during our first meeting to develop targeted therapies for this devastating disorder. The primary focus of this proposal is to increase participation of trainees, young investigators and underrepresented minorities (URMs) in neurodevelopmental disorder research in general and SYNGAP1 research in particular. In order to accomplish these goals, we have created a symposium featuring opportunities for these groups to increase their awareness of this disorder by inviting an international panel of experts to present unpublished work concerning SYNGAP1 and related neurodevelopmental disorders. Moreover, we have created a pre-symposium focused on trainees, new investigators and URMs. In this pre- symposium, they will have an opportunity to present their unpublished work, receive feedback from other trainees as well as leaders in neurodevelopmental disorder research and have an opportunity to present in the main symposium. We anticipate by promoting their participation in this symposium, we will encourage the next generation of clinicians and neuroscientists to investigate neurodevelopmental disorders.