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.
Symposium Opening
Speaker: Amber Freed, Founder SLC6A1 Connect
1. Clinical Trial Readiness for SLC6A1-related neurodevelopmental disorder
Speaker: Kim Goodspeed, MD, MSCS
Institution: UT Southwestern Medical Center, CTSA Program
2. Simons Searchlight Registry Findings for SLC6A1
Speaker: Paul Wang, MD
Institution: Simons Searchlight Foundation
3. Invitae Real World Data
Speaker: Elli Brimble
Institution: Invitae
4. Patient Perspective : William’s Ravicti Trial
Speaker: Whitney Feldman, SLC6A1 Parent
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
6. Phenylbutyrate for STXBP1 and SLC6A1
Speaker: Zachary Grinspan, MD MS
Institution: Weill Cornell Medicine
7. NIH Funding Mechanisms
Speaker: Vicky Whittemore, PhD
Institution: National Institute of Neurological Disorders and Stroke – NIH
8. Charlie’s Diagnostic Journey
Speaker: Kimberly Fry
Institution: SLC6A1 Connect
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
11. Finding Patients Through Genomic Sequencing
Speaker: Holly L. Snyder, MS, LCGC
Institution: Illumina
12. Patient Perspective : A Newly Diagnosed Mother
Speaker: Erika Vandenberg, SLC6A1 Parent
13. GABAergic Systems and the Role of GAT-1
Speaker: Kirill Zavalin, PhD
Institution: Vanderbilt University
14. The SLC6A1 Portal
Speaker: Dennis Lal, PhD
Institution: Cleveland Clinic
15. Pharmacological Thoughts for SLC6A1
Speaker: Michael A. Rogawski, MD, PhD
Institution: University of California, Davis
16. Molecular and Neurophysiological Effects of Spontaneous S295L Mutation
Speaker: Michael Kavanaugh, PhD
Institution: University of Montana
17. Epileptic Circuits in a Mouse Model of SLC6A1 Related Disorder
Speaker: Jeanne Paz, PhD
Institution: University of California, San Francisco
(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