SYNGAP1 Conference 2022

Registration: Syngap.Fund/Treat


Join us for the SynGAP Research Fund’s SYNGAP1 Conference 2022: Charting Our Rare Disease Treatment Path

Scientific Meeting: Thursday, December 1

Family Connect: Friday, December 2

Who: SYNGAP1 families, doctors, scientists, researchers, & industry reps

What: A two-day conference, with scientific meeting (Thursday, December 1) & family meeting (Friday, December 2)

When: December 1st & 2nd, 2022

Where: Holiday Inn Express & Conference Center, 920 Broadway, Nashville, TN 37203

🏨 Book a room at the HIE using our group rate of $199

Why: SRF will be holding a SYNGAP1 scientific meeting for SYNGAP1 parents, scientists, researchers, & other industry. We’ve added a special non-science family meeting the following day!

Sponsorship Opportunities are Available

Contact us at info@syngapresearchfund.org for sponsorship opportunities.


Scientific Meeting

Thursday, December 1 from 8am-5pm

The conference is intended to bring rare disease stakeholders across the research and regulatory spectrum together to discuss research interventions of interest to the SYNGAP1 community and develop a road map for next steps in trial design for therapeutics for SYNGAP1. Audience members are expected to include SYNGAP1 parents, SYNGAP1 researchers, and other rare disease parents and researchers interested in learning novel science and research regulatory aspects of rare diseases that can inform SYNGAP1 treatment development.

Tentative Agenda (subject to change)

8:00-8:10am Welcome. Mike Graglia, MBA, MA, SynGAP Research Fund Managing Director

Session #1: The State of Rare Disease Gene Based Trials. Moderator: Ingrid Scheffer, AO, MBBS, PhD (University of Melbourne)

8:10- 10:00am

  • 8:10: Ed Kaye, MD (CEO and Director of Stoke Therapeutics)—TANGO Precision Medicine Platform 
  • 8:40: Timothy Yu, MD, PhD (Boston Children’s Hospital and Harvard Medical School)—"N of 1s" and Their Place in the Rare Disease Trial Ecosystem
  • 9:10: Jeff Coller, PhD (Johns Hopkins)—mRNA Amplifier Technology for SYNGAP1
  • 9:40: Moderated Q&A

Session #2: Defining the SYNGAP1 Clinical Spectrum: Identifying Outcomes for Preclinical and Clinical Trials.  Moderator: TBD


  1. 10:00: Kimberly Wiltrout, MD (Boston Children’s Hospital and Harvard Medical School)—SYNGAP1 Clinical Spectrum from Ciitizen Database 
  2. 10:25: Danielle Andrade, MD, MSc (University of Toronto)—SYNGAP1 Clinical Spectrum in Adults
  1. 10:50: Constance Smith-Hicks, MD, PhD (Kennedy Krieger Institute and Johns Hopkins University)—Sleep and SYNGAP1
  2. 11:15: Bryce B. Reeve, PhD (Duke University)—Measuring Communication Ability in Clinical Trials: A Caregiver-Centered Approach
  3. 11:40: Moderated Q&A

LUNCH: 12:00-1:00pm

Session #3: Key Efforts within SynGAP Pre-clinical Models. Moderator: Rick Huganir (Johns Hopkins University)


  • 1:00: Gavin Rumbaugh, PhD (Scripps Research Institute)—SynGAP Isoforms
  • 1:30: Sally Till, PhD (University of Edinburgh)—Rat model of SYNGAP1
  • 2:00: Elizabeth A. Heller, PhD (University of Pennsylvania Perelman School of Medicine)—Epigenetic Regulation of SYNGAP1-Related Intellectual Disability
  • 2:30: Moderated Q&A

Session #4: Designing a Trial. Moderator: Annapurna Poduri, MD, MPH (Boston Children’s Hospital and Harvard Medical School)

3:00-5:00 pm

  • 3:00: Jacqueline French, MD (NYU)—Epilepsy Trial Methodologies
  • 3:30: Vicky Whittemore, PhD (National Institute of Neurological Disorders and Stroke, NIH)—NIH Funding Mechanisms
  • 4:00: Breakout Sessions
  • 4:30: Moderated Large Group Session & Closing Remarks


Family Connect

Friday, December 2 from 9am-9pm

Tentative Agenda (more details to come)

Morning: News you can use. How to work with SRF—volunteering, fundraising, advocacy.

Afternoon: 2023 strategic planning.

Evening: SRF year-end dinner.

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