The 2022 SLC6A1 Connect Symposium was held on December 1st, 2022, the day before the annual American Epilepsy Society Conference. The events were held in Nashville, Tennessee. Both SLC6A1 researchers and several SLC6A1 families attended the symposium.

Please watch this 3-minute video to hear parents talk about their dreams for their SLC6A1 children

Symposium Opening

Speaker: Amber Freed, Founder SLC6A1 Connect

Slides, Video

1. Clinical Trial Readiness for SLC6A1-related neurodevelopmental disorder

Speaker: Kim Goodspeed, MD, MSCS
Institution: UT Southwestern Medical Center, CTSA Program

Slides, Video

2. Simons Searchlight Registry Findings for SLC6A1

Speaker: Paul Wang, MD
Institution: Simons Searchlight Foundation

Slides, Video

3. Invitae Real World Data

Speaker: Elli Brimble
Institution: Invitae

Slides, Video

4. Patient Perspective : William’s Ravicti Trial

Speaker: Whitney Feldman, SLC6A1 Parent

Video

5. 4-phenylbutyrate rescue of SLC6A1 mutations in cell SLC6A1 mutation-mediated and mouse models disorders in patient derived cell and mouse models

Speaker: Jing-Qiong (Katty) Kang, MD, PhD
Institution: Vanderbilt University

Slides, Video

6. Phenylbutyrate for STXBP1 and SLC6A1

Speaker: Zachary Grinspan, MD MS
Institution: Weill Cornell Medicine

Slides, Video

7. NIH Funding Mechanisms

Speaker: Vicky Whittemore, PhD
Institution:
National Institute of Neurological Disorders and Stroke – NIH

Slides, Video

8. Charlie’s Diagnostic Journey

Speaker: Kimberly Fry
Institution:
SLC6A1 Connect

Slides, Video

9. Gene Therapy For SLC6A1 Disorders

Speaker: Steven Gray
Institution:
UT Southwestern Medical Center

Please contact Dr. Gray directly to learn about this effort.

10. Biomarker and Outcome Measure Selection

Speaker: Anna C. Pfalzer
Institution:
Combined Brain

Video

11. Finding Patients Through Genomic Sequencing

Speaker: Holly L. Snyder, MS, LCGC
Institution:
Illumina

Slides, Video

12. Patient Perspective : A Newly Diagnosed Mother

Speaker: Erika Vandenberg, SLC6A1 Parent

Video

13. GABAergic Systems and the Role of GAT-1

Speaker: Kirill Zavalin, PhD
Institution:
Vanderbilt University

Slides, Video

14. The SLC6A1 Portal

Speaker: Dennis Lal, PhD
Institution:
Cleveland Clinic

Video

15. Pharmacological Thoughts for SLC6A1

Speaker: Michael A. Rogawski, MD, PhD
Institution:
University of California, Davis

Video

16. Molecular and Neurophysiological Effects of Spontaneous S295L Mutation

Speaker: Michael Kavanaugh, PhD
Institution:
University of Montana

Video

17. Epileptic Circuits in a Mouse Model of SLC6A1 Related Disorder

Speaker: Jeanne Paz, PhD
Institution:
University of California, San Francisco

Video

(Poster) Functional Genomics of Rare Coding Region Variants in the GABA Transporter, GAT-1

Author: Dina Buitrago Silva, PhD
Institution:
University of California, San Francisco

Poster

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