# SYNGAP1: Charting our Rare Disease Treatment Path

> **NIH NIH R13** · BOSTON CHILDREN'S HOSPITAL · 2022 · $25,000

## Abstract

ABSTRACT
The SYNGAP1 2022 Conference: Charting our Rare Disease Treatment Path will bring together
clinicians, researchers, and patient families to develop consensus on a path toward treatment trials.
In this day-long conference, presenters will address promising technologies currently in trials in other,
better characterized genetic epilepsies that can serve as a model for use in SYNGAP1. Lessons
learned from these other trials will be presented in order to capitalize on previous experiences and
highlight vital knowledge gaps in SYNGAP1. Speakers will also present current phenotyping and
promising clinical outcomes in SYNGAP1, as well as advances in neurobiology since the previous
conference in 2020. An overarching goal of the conference is the development of consensus for
actionable steps that must be taken toward clinical trials. The conference will also promote interaction
and discussion through moderated question and answer sessions with panel discussions at the end
of each of 4 sessions and a breakout small group session to design a trial. Junior investigators and
individuals with diverse backgrounds will be invited to the conference and will be encouraged to
participate in the discussion during the small group session. The expected conference outcome will
be a peer-reviewed manuscript summarizing the proceedings of the meeting with the theme of
building a consensus of actionable goals to work toward a gene-based therapy trial in SYNGAP1.

## Key facts

- **NIH application ID:** 10608853
- **Project number:** 1R13NS130932-01
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Annapurna Poduri
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $25,000
- **Award type:** 1
- **Project period:** 2022-09-26 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10608853

## Citation

> US National Institutes of Health, RePORTER application 10608853, SYNGAP1: Charting our Rare Disease Treatment Path (1R13NS130932-01). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10608853. Licensed CC0.

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