The 2024 SLC6A1 Connect Symposium was held on December 5th, just before the annual American Epilepsy Society Conference. The symposium was held in Los Angeles, California. Both SLC6A1 researchers and several SLC6A1 families attended the symposium.
Symposium Opening, Amber Freed, Founder SLC6A1 Connect
Patient Perspective – A UK Mother’s Journey
Speaker: Lindsay Randall
Institution: SLC6A1 Connect UK – Arthur’s Quest
Clinical Presentation of SLC6A1-NDD
Speaker: Marie Varnet, MD
Institution: UT Southwestern and Children’s Health Dallas
EEG Delta Power in SLC6A1 NDD
Speaker: Deepa Sirsi, MD, FAES
Institution: UT Southwestern
Assessing Severity in DEE
Speaker: Scott Demarest, MD, MSCS
Institution: Precision Medicine Institute, Children’s Hospital Colorado
Phenylbutyrate for Monogenetic DEE
Speaker: Zachary Grinspan, MD, MS
Institution: Weill Cornell Medicine
SLC6A1-NDD Standard of Care Development
Speakers: Sarah Poliquin, PhD, Jacob Tiller
Institutions: COMBINED Brain and SLC6A1 Connect
Mitochondria – An Organelle Critical
Speakers: Sundeep Dugar, PhD
Institutions: Blue Oak Nutraceuticals
Plasma Proteomics in Rare Neurodevelopmental Disorders
Speakers: Anna Pfalzer, PhD
Institutions: COMBINED Brain
Patient Perspective: Behavioral Impacts on Young Adults with SLC6A1
Speakers: Kevin McEntee
Institutions: SLC6A1 Connect
CIRM Past, Present, and Future: A California Stem Cell Story
Speakers: James Campanelli, PhD
Institutions: California Institute for Regenerative Medicine
Antisense Oligonucleotides (ASOs) for SLC6A1 Disease
Speakers: Brett Bennetts, PhD
Institution: Florey Institute of Neuroscience and Mental Health
Gene Therapy Update
Speakers: Steven J. Gray, PhD
Institution: UT Southwestern
Identification and Mechanism of a Novel Drug Therapy
Speakers: Michael Kavanaugh, PhD
Institution: University of Montana
A Targeted Approach For Gene Therapy
Speakers: Henry Lee, MPhil, PhD
Institution: Boston Children’s Hospital
Haploinsufficiency and Neurodevelopmental Consequences
Speakers: Nicholas Knoblauch, PhD
Institution: BioMarin Pharmaceutical
Electrophysiology Reveals 5 Electrogenic Events in hGAT1 Cycle
Speakers: G. Federico Amodeo, PhD
Institution: Nanion
Betaine’s Impact on Mutants of SLC6A1 Transporter
Speakers: Elena Bossi, PhD
Institution: University of Insubria
4 Phenylbutyrate Rescue of SLC6A1 Mediated Phenotypes
Speakers: Jing-Qiong (Katty) Kang, MD, PhD
Institution: Vanderbilt Brain Institute
4 Phenylbutyrate Treatment for Altered GABAergic Transmission in Mice
Speakers: Kirill Zavalin, PhD
Institution: Vanderbilt Brain Institute
Parent Perspective: In my Everett Era
Speakers: Jenny Bennett
Institution: SLC6A1 Connect
Streamlined Clinical Trials
Speakers: Terry Jo Bichell, PhD
Institution: COMBINED Brain
Panel: Putting Thoughts into Action
Moderator: Amber Freed
Institution: SLC6A1 Connect