National Institutes of Health

National Institutes of Neurological Disorders and Stroke



Bridge the Gap – SYNGAP Education and Research Foundation announce that an SYNGAP1 Patient-Focused Drug Development Meeting – SYNGAP1: Patient Voices – will be held in November 2020 in conjunction with their International SYNGAP1 Conference at the NIH/NINDS Neurological Center in Rockville, Maryland.

About the Conference

Our 3rd International SYNGAP1 Symposium will bring together scientists and clinicians actively involved in SYNGAP1 research with trainees, young investigators and underrepresented minorities as well as experts in development of targeted therapies for related neurodevelopmental disorders. Our goal is to increase participation of trainees, young investigators and underrepresented minorities in neurodevelopmental disorder research in general and SYNGAP1 related disorder in particular in order to promote development of targeted therapies for this disorder.

Primary objectives of the program or initiative, including intended outputs and outcomes

In order to fill the knowledge gaps described above, investigators will be enourced to participate in understanding the clinical consequences of SYNGAP1 haploinsufficiency and basic neurobiology of SynGAP through the following specific aims:

(1) Expand the SYNGAP1 research and clinical community, including the introduction of junior scientists and clinicians, postdoctoral and clinical fellows and graduate students to the importance of studying this and related rare diseases. Because SYNGAP1 haploinsufficiency is a newly described disorder (less than 10 years since the first human mutations were described), the number of scientists and clinicians who have any knowledge of this disorder is small despite the prevalence of this disorder being the same magnitude of much more well studied neurodevelopmental disorders such as Rett and Fragile X Syndrome.

(2) Bring together internationally-recognized basic scientists and clinicians interested in the function of SynGAP protein, the disease substrates underlying the disorder, and the development of novel therapies for rare genetic disorders. In addition to scientists and clinicians who actively study SYNGAP1, we are inviting scientists and clinicians developing and employing new technologies such as gene replacement using viral vectors and antisense oligonucleotide approaches for treating related neurodevelopmental disorders. By bringing these groups together under one roof, we anticipate development of collaborations and synergies that will accelerate treatment development and could be a model approach for other neurodevelopmental disorders.