Investigators Workshop | Disorders of GABA Metabolism

Sunday, December 5, 2021
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OVERVIEW:

This session examines the breakthrough approach of personalized targeted therapies for inherited metabolic epilepsies.

Personalized targeted therapies (e.g. antisense oligonucleotides, enzyme replacement, and gene therapy) are burgeoning in rare genetic-metabolicepilepsies. e.g. Inherited neurotransmitter disorders are a model for such interventions.

This workshop reviews:

  1. Clinical and scientific aspects of the major disorders of GABA metabolism
  2. Results and challenges of the recent clinical trial held at NINDS/NIH utilizing a GABA(B) receptor antagonist
  3. Focus on neurophysiologic strategies utilizing TMS, hdEEG, and MEG to model GABA metabolism
  4. Development of enzyme replacement therapy in a tetracycline-derived animal model will be illustrated as a breakthrough approach in the treatment of this and related inherited metabolic epilepsies.

Learning Objectives:

Following participation in this activity, participants will be able to:

  • Develop clinical trials in rare inherited neurometabolic epilepsies
  • Formulate neurophysiologic markers of neurotransmitter metabolism using EEG and MEG studies
  • Learn genetically programmed on-demand models to provide enzyme replacement therapy

Program:

Moderators: Phillip L. Pearl, MD, FAES and William H. Theodore, MD, FAES

Speakers: John Schreiber, MD, Christos Papadelis, PhD, and Henry HC Lee, PhD

Education Credit:

1.5 Nursing Contact Hours 

1.5 Pharmacy Contact Hours

1.5 CME 

Activity Type
Investigators Workshop
Credit
CME
CE
Format
In person
On-demand
Career Stage
Early Career (typically 0-5 years from completion of training)
Mid-Career (typically 6-15 years from completion of training)
Senior (typically >15 years from completion of training)
Audience
Advocates
Advanced Practice Providers
Behavioral Health Providers
Clinicians
Fellows/Trainees
Pharmacists
Scientists/Researchers
Technicians
Demographic
Clinical
First-time Attendees
Research
Young Professionals