2019 Scientific Symposium

2019 SLC6A1 Connect International Conference
Schedule
(.pdf)

SLC6A1 Connect Update
Speaker: Amber N. Freed, Organization: SLC6A1 Connect
     Video:  (Link)
“The CEO and founder of SLC6A1 Connect, Ms. Freed’s background is in equity and financial analysis. Through SLC6A1 Connect, she has elevated awareness and created a network that can systematically help fund and consolidate research and treatment efforts for SLC6A1, and later other rare genetic disorders.”

The Clinical Presentation of SLC6A1
Speaker:
Katherine L. Helbig, MC, LCGC, Institution: Children’s Hospital of Philadelphia
     Slides: (.pdf)
     Video: (Link)
“Katie Helbig, MC, LCGC is a board certified and licensed genetic counselor specializing in the genetics of the epilepsies, neurodevelopmental disorders, and diagnostic genomic testing. She provides clinical genetic counseling for patients and families with childhood-onset epilepsies and related neurodevelopment disorders.”

Simons Searchlight Registry Findings for SLC6A1
Speaker:
Jennifer Bain, MD, PhD, Institution: Columbia University Medical Center
     Slides: (.pdf)
     Video: (Link)
Jennifer Bain, MD, PhD Bio: Dr. Bain is interested in the genetic causes of neurodevelopmental disorders. She sees inpatient and outpatient pediatric neurology patients, and provides programs for neurodevelopmental disabilities, neurogenetic disorders as well as a follow-up clinic for ECMO survivors.

Characterization of Variant Tolerant and Intolerant Sites in SLC6A1 Dysfunction
Speaker:
Dennis Lal, PhD, Institution: Cleveland Clinic & Broad Institute
     Video: (Link)
“Dennis Lal, PhD is using genetic data from in-house and globally collected patient cohorts, Dr. Lal works to discover genes related to epilepsy syndromes, develop novel methods for interpreting missense variants, and to characterize patient disease trajectories. Ultimately, he hopes to improve patient outcomes.”

Celluar In Vitro Modeling for SLC6A1
Speaker:
Julieth Sierra Delgado, D, MD, M.Sc., Institution: Nationwide Children’s Hospital
     Slides: (.pdf)
     Video:  (Link)
“Dr. Delgado’s research is focused on integrating basic and clinical research by doing translational science that can both expand the knowledge of the physiopathology of severe neurological and muscular disorders and be applied to a future clinical setting in benefit of patients.”

Mouse Models for SLC6A1
Speaker:
Frances Shaffo, PhD, Institution: University of Texas Southwestern
     Slides: (.pdf)
     Video: (Link)
“Dr. Shaffo is passionate about translational research and gene therapy; she conducts translational preclinical research supporting gene therapy approaches for rare neurological diseases. Over the past year, gene therapy research to treat SLC6A1 disorder has been her primary focus.”

GABAergic Systems and the Role of GAT1
Speaker:
Amy Brooks-Kayal, MD, Institution: Children’s Hospital of Colorado
         Video:  (Link)
“Dr. Brooks-Kayal’s research focuses on how changes in GABA(A) receptors and cellular signaling pathways contribute to epileptogenesis and on the development of novel treatments for the prevention, treatment, and cure of epilepsy. She manages those with complex and medically refractory epilepsy.”

Model SLC6A1 Mutation Associated Disorders from Stem Cells to Mice
Speaker:
Katty Kang, MD, PhD, Institution: Vanderbilt University
     Slides: (.pdf)
     Video:  (Link)
A physician-scientist and epileptologist by training, Dr. Kang is committed to finding better mechanism-based treatments for epilepsy, especially genetic epilepsy. She has a broad perspective of understanding epilepsy from both the clinical and molecular level.”

Pharmacological Thoughts for SLC6A1
Speaker:
Michael Rogawski, MD, PhD, Institution: University of California, Davis
   Slides: (.pdf)
   Video:  (Link)
“A distinguished researcher and professor, Dr. Rogawski’s clinical interests include cellular neurophysiology of ion channels; neurological therapeutics, with an emphasis on antiepileptic drugs and other epilepsy treatment approaches; treatment of traumatic brain injury, and post-traumatic epilepsy.”

Potential Drug Targets for SLC6A1
Speaker:
Ana C. Puhl, PhD, Institution: Collaborations Pharmaceutical
     Slides: (.pdf)
     Video: (Link)
“Dr. Puhl earned her Ph.D. in Biomolecular Physics. She has studied and worked on drug discovery and crystallography, high-throughput screening assays, development of chemical probes for cancer targets, and crystallography of protein-peptide, protein-small molecule and protein-antibody complexes.”

Flourescent Sensors for Neuroscience
Speaker:
Jonathan Marvin, PhD, Institution: Howard Hughes Medical Institute
     Slides: (.pdf)
     Video:  (Link)
“Dr. Marvin is a protein engineer and biochemist with over 20 years of experience. He received his PhD from Duke in Computational Engineering, and now focuses on making intensity-based fluorescent biosensors from GFP and periplasmic binding proteins.”

Anti-Sense Oligonucleotide Treatment
Speaker: Athma Pai, PhD, Institution: University of Massachusetts
     Slides (.pdf)
     Video:  (Link)
“Dr. Pai was fascinated by science at an early age. Now a distinguished researcher, she focuses on developing and applying methods to study the kinetics of RNA processing and understanding how various steps in RNA maturation are coordinated through the lifecycle of an RNA molecule.”

Stoke’s TANGO Upregulation Update
Speaker:
Gene Liau, PhD, Institution: Stoke Therapeutics
     Slides (.pdf)
     Video:  (Link)
“Gene Liau, PhD discusses Stoke Therapeutics’s TANGO upregulation technique to be used as an antisense oligonucleutide therapy.  Prior to his employment at Stoke, Dr. Liau held prestigious roles at Precision BioSciences, Pfizer, Shire, and Novartis. He received his PhD in biochemistry from Vanderbilt University and has extensive experience in gene therapies and R&D for rare disease and hematology.”

Gene Replacement Therapy
Speaker: Steven Gray, PhD, Institution: University of Texas Southwestern
Please contact Dr. Gray directly to view slides or discuss the status of his project as results are unpublished.

Considerations and Approaches for GMP Manufacturing of Viral Vectors for Gene Therapy
Speaker: Nick Conley, PhD, Institution: Locus Biosciences
     Slides: (.pdf)
     Video: (Link)
“Nick Conley, PhD Discusses Considerations and Approaches for GMP Manufacturing of Viral Vectors for Therapy”

The Group