3rd International SYNGAP1 Meeting

NIH RePORTER · NIH · R13 · $10,000 · view on reporter.nih.gov ↗

Abstract

PROJECT SUMMARY/ABSTRACT SYNGAP1-Related Disorder is a neurodevelopmental disorder that is characterized by intellectual disability, epilepsy, autism and other behavioral challenges resulting from mutations in the SYNGAP1 gene. This disorder was first reported in 2012 and the prevalence of pathogenic mutations in SYNGAP1 is approximately 1% of all individuals with intellectual disability making it as common as Rett and Fragile X Syndrome. Despite its prevalence less is known about this disorder. Although the 1st and 2nd International SYNGAP1 Symposium have been successful in increasing the number of groups studying this disorder, there is much we do not know about the natural history of SYNGAP1 and targeted approaches to treat this devastating disorder. The goals of this symposium are to increase participation of trainees, young investigators and underrepresented minorities (URMs) in SYNGAP1 research and foster collaboration between junior and senior scientist, and between clinicians and scientist. Towards this end the 3rd International SYNGAP1 Symposium will provide opportunities for these groups to engage with NIH program staff and learn from an international panel of experts who are invited to share unpublished work on SYNGAP1 and related disorders. The symposium will occur over 2 days and is divided into three sections: a young investigator workshop which will occur concurrently with a family educational event and will open the main symposium with a poster reception. The symposium will end with FDA-Externally Led Patient-Focused Drug Development (PFDD) meeting. The Young Investigators Workshop will be focused on career development and the trainees, new investigators and URMs, will have an opportunity to present their unpublished work, receive feedback from other trainees as well as leaders in field of neurodevelopmental disorder research and engage with SYNGAP patients and their families. We anticipate that by promoting their participation in this symposium, we will not only encourage the next generation of clinicians and neuroscientists to investigate neurodevelopmental disorders, but we will continue to foster multi-site collaborative efforts, that is expected to facilitate continued rapid advancements in this field.

Key facts

NIH application ID
10144037
Project number
1R13NS119003-01A1
Recipient
HUGO W. MOSER RES INST KENNEDY KRIEGER
Principal Investigator
Constance Leonie Smith-Hicks
Activity code
R13
Funding institute
NIH
Fiscal year
2020
Award amount
$10,000
Award type
1
Project period
2020-09-30 → 2021-09-29