# 3rd International SYNGAP1 Meeting

> **NIH NIH R13** · HUGO W. MOSER RES INST KENNEDY KRIEGER · 2020 · $10,000

## 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international panel of experts who are invited to share unpublished work on SYNGAP1 and related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opportunity to present their unpublished work, receive feedback from other trainees as well as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 organization:** HUGO W. MOSER RES INST KENNEDY KRIEGER
- **Principal Investigator:** Constance Leonie Smith-Hicks
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $10,000
- **Award type:** 1
- **Project period:** 2020-09-30 → 2021-09-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10144037

## Citation

> US National Institutes of Health, RePORTER application 10144037, 3rd International SYNGAP1 Meeting (1R13NS119003-01A1). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10144037. Licensed CC0.

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