Agenda
June 20 (Day 1)
All times are in EDT.
| 9:00 AM – 9:15 AM | Introduction and Welcome Walter Koroshetz, MD Director, NIH/NINDS |
| 9:15 AM – 9:25 AM | Setting the Stage – Goals of the Workshop Vicky Whittemore, PhD NIH/NINDS |
| 9:25 AM – 9:50 AM | Action Potential: An Effort to Develop Genetic Strategies for a Rare Neurological Disease Simon Frost Tiber Capital Group |
Session I: State-of-the-art in Genetic Strategies for Treatment
Moderator: Dan Lowenstein, MD; University of California, San Francisco
| 9:50 AM – 10:00 AM | Introduction to Session Dan Lowenstein, MD |
| 10:00 AM – 10:25 AM | Developing Circuit Based Gene Therapies Beverly Davidson, PhD University of Pennsylvania |
| 10:25 AM – 10:50 AM | A Clinically Editable Brain Is Within Sight: Track Record and Trajectory of CRISPR For Neurologic Disease Fyodor Urnov, PhD University of California, Berkeley |
| 10:50 AM – 11:10 AM | Break |
| 11:10 AM – 11:35 AM | Prenatal Therapies for Neurologic Diseases Tippi Mackenzie, MD University of California, San Francisco (via Zoom) |
| 11:35 AM – 12:00 PM | Panel Discussion |
| 12:00 PM – 1:00 PM | Lunch |
| 1:00 PM – 2:00 PM | Poster Session for Young/Early Career Investigators |
Session II: Progress, Pitfalls and Lessons Learned from Neurological and Non-Neurological Trials/Treatments
Moderator: Ann Poduri, MD, MPH; Boston Children’s Hospital
| 2:00 PM – 2:10 PM | Introduction to Session Ann Poduri, MD, MPH |
| 2:10 PM – 2:35 PM | Gene Therapy as a Platform: From Giant Axonal Neuropathy to the PaVeGT Project and the Bespoke Gene Therapy Consortium Carsten Bonnemann, MD NIH/NINDS |
| 2:35 PM – 3:00 PM | Use of ASOs for Genetic Correction of Angelman Syndrome Elizabeth Berry Kravis, MD, PhD Rush University |
| 3:00 PM – 3:25 PM | Risks and Treatment Choices for Neurological Diseases Florian Eichler, MD Massachusetts General Hospital |
| 3:25 PM – 3:45 PM | Break |
| 3:45 PM – 4:10 PM | New Paths to the Waterfall: Lessons Learned from AAV Product Development Kathy High, MD Rockefeller University |
| 4:10 PM – 4:35 PM | From N of 1 to Population Health to Treat Genetic Epilepsies Wendy Chung, MD, PhD Boston Children’s Hospital (via Zoom) |
| 4:35 PM – 5:00 PM | Panel Discussion |
| 5:00 PM | Adjourn |
June 21 (DAY 2)
All times are in EDT.
Session III: Considerations for Designing and Implementing Therapy for the Epilepsies
Moderators: Lori Isom, PhD; University of Michigan & Heather Mefford, MD, PhD; St. Jude’s Children’s Hospital
| 9:00 AM – 9:10 AM | Introduction to Session Lori Isom, PhD & Heather Mefford, MD, PhD |
| 9:10 AM – 9:35 AM | Predicting Pathogenicity – Which Variants (Will) Cause Disease? Considering Mechanism – Approaches for Gain vs Loss of Function Gemma Carvill, PhD Northwestern University (via Zoom) |
| 9:35 AM – 10:00 AM | TANGO as a Therapeutic Strategy for Epilepsy Design & Implementation: Successes and Challenges Isabel Aznarez, PhD Stoke Therapeutics |
| 10:00 AM – 10:25 AM | Pinpointing the Perfect Timing: Critical Time Windows for Gene Therapy Delivery Gaia Colasante, PhD San Raffaele Hospital |
| 10:25 AM – 10:45 AM | Panel Discussion |
| 10:45 AM – 11:00 AM | Break |
Session IV: Crucial Issues Beyond the Genetic Strategy
Moderators: Vicky Whittemore, PhD; NIH/NINDS & George Umanah, PhD; NIH/NINDS
| 11:00 AM – 11:10 AM | Introduction to Session Vicky Whittemore, PhD |
| 11:10 AM – 11:35 AM | Enhancing Global Rare Epilepsy Care Through Online Knowledge Resources Dennis Lal, PhD University of Texas – Houston |
| 11:35 AM – 12:05 PM | Becoming a Treatable Genetic Condition Mary Ann Meskis Dravet Syndrome Foundation (via Zoom) |
| 12:05 PM – 1:00 PM | Lunch |
| 1:00 PM – 1:25 PM | Informed and Efficient Clinical Trials Design Using Natural History Data and Disease Modeling Melanie Quintana, PhD Berry Consultants |
| 1:25 PM – 1:50 PM | Considerations for Remote Phenotyping in Pediatric Research Heather Hazlett, PhD University of North Carolina |
| 1:50 PM – 2:15 PM | Ethical Issues Raised in the Development of Genetic Strategies to Treat Rare Neurological Disorders Lainie Ross, MD, PhD University of Rochester |
| 2:15 PM – 2:35 PM | Panel Discussion with Discussant Rosa Sherafat, MD FDA |
| 2:35 PM – 3:00 PM | Wrap-up Discussion Moderator: Dan Lowenstein, MD |
| 3:00 PM | Adjourn |
