The 2023 SLC6A1 Connect Symposium was held on November 30th, 2023, the day before the annual American Epilepsy Society Conference. The events were held in Orlando, Florida. Both SLC6A1 researchers and several SLC6A1 families attended the symposium.
Symposium Opening, Amber Freed, Founder SLC6A1 Connect
Introducing Cure GABA A Foundation
Speaker: Monica Joanna Elnekaveh
Institution: Cure GABA A Foundation
Haley’s Journey, a parent perspective
Speaker: Emily Haus
Institution: SLC6A1 Connect
Disease-Relevant Cell Models for Rare Neurogenetic Disorders
Speaker: Nianwei Lin, PhD
Institution: iXCells Biotechnologies
Combined Brain: Speeding the path to clinical treatments
Speaker: Anna Pfalzer, PhD
Institution: Combined Brain
Seizing the Future: Promising New Treatments for Epilepsy in Clinical Testing
Speaker: Michael A. Rogawski, MD, PhD
Institution: University of California, Davis
Studying SLC6A1 at the Gladstone Institute, UCSF
Speaker: Yulia Voskobiynyk, PhD
Institution: Gladstone Institute, University of California, Davis
Molecular and Neurobehavioral Phenotypes of Two SLC6A1 Mutation Mouse Models
Speaker: Katty Kang, MD, PhD
Institution: Vanderbilt University
GABAergic Neurotransmission with GAT-1 (S295L) Variant
Speaker: Kirill Zavalin, PhD
Institution: Vanderbilt University
The SLC6A1-Portal: How aggregated data can facilitate research & clinical decision making
Speaker: Dennis Lal, PhD
Institution: UTHealth, Houston
Gene Therapy for SLC6A1-Related Disorders
Speaker: Steven J. Gray, PhD
Institution: UT Southwestern Medical Center
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Galibra: a GABA focused Gene Therapy Initiative
Speaker: Henry Lee, PhD
Institution: Boston Children’s Hospital
A Day In the Life: Parent perspective
Speaker: Kellie Herbert
Institution: SLC6A1 Connect
SLC6A1 lox-stop-lox Mouse Model Overview
Speaker: Jennifer SanMiguel, PhD
Institution: The Jackson Laboratory
High-throughput imaging of GABA fluorescence as a functional assay for GAT1 variants in myoclonic astatic epilepsy
Speaker: Chris McGraw, MD, PhD
Institution: Massachusetts General Hospital
The Ciitizen Registry
Speaker: Ellie Brimble, MS
Institution: Ciitizen Invitae
The Patient Experience
Speaker: Allyssa Hinckley Henderson, DVM
Institution: SLC6A1 Connect
SLC6A1-NDD Natural History Study Update
Speaker: Kimberly Goodspeed, MD
Institution: UT Southwestern & Children’s Health Dallas
Phenylbutyrate for SLC6A1 and STXBP1
Speaker: Zachary Grinspan, MD, MS
Institution: Weill Cornell
ATX-018 Treatment of Neurodevelopmental Disorder
Speaker: Sundeep Dugar, PhD
Institution: Aayam Therapeutics
GABA transport in brain tissue from SLC6A1 S295L transgenic mice
Speaker: Michael Kavanaugh, PhD
Institution: University of Montana
Simons Searchlight Registry Findings for SLC6A1
Speaker: Paul Wang, MD
Institution: Simons Searchlight
Endpoints: Why do we care?
Speaker: Terry Jo Bichell, PhD
Institution: Combined Brain
Panel Discussion
Moderator: Yael Weiss, MD, PhD
Institution: Mahzi Therapeutics