The CACNA1A Foundation organized an inaugural CACNA1A Family & Scientific Conference on July 24-25, 2021, providing an opportunity for the global CACNA1A community to come together for the first time to virtually learn from one another. We had 283 patients, parents, caregivers, clinicians, scientists and industry representatives register from 21 countries to learn, share, and connect.
If you weren’t able to join us or would like to re-watch the sessions, below you find the conference brochure and the presentation recordings. They are also available on our YouTube channel.
Saturday, July 24th
Welcome & Keynote with Tracy Dixon-Salazar, PhD, Executive Director LGS Foundation
Update on the CACNA1A Natural History, Wendy Chung, MD, PhD, Columbia University
Understanding The Function Of The P/Q-Type Channel And Implications For Drug Discovery Efforts
Terrance Snutch, PhD, The University of British Columbia & Gerald Zamponi, PhD, University of Calgary
Charting The Course: CACNA1A Roadmap To A Cure, Jeffrey Noebels, PhD, Baylor College of Medicine
Ask The Experts Panel: CACNA1A-related Hemiplegic Migraines
Ingo Helbig, MD, Children’s Hospital of Philadelphia & Shannon Babineau, MD, Atlantic Medical Group
Sunday, July 25th
Day 2 Welcome & Overview Of CACNA1A Foundation Research Grant Program
Grant Recipient Presentation #1: Targeting Disease Mechanisms In CACNA1A Disorders, Christopher M. Gomez, MD, PhD, The University Of Chicago
Grant Recipient Presentation #2: CACNA1A Epilepsy: Phenotypic Landscape And Genotype-Phenotype Correlations,
Annapurna Poduri, MD, MPH, Boston Children’s Hospital
Grant Recipient Presentation #3: Preclinical Study Of Pharmacological Reversal Of P/Q Calcium Channel Loss Of Function Mutation, Qinglong Miao, PhD, Baylor College Of Medicine
Ask The Experts Panel: CACNA1A-related Cerebellar Ataxia: Incoordination, Imbalance and Nystagmus, Joanna Jen, MD, PhD, Mount Sinai Hospital & Kristin Baranano, MD, PhD, Johns Hopkins Medicine
Ask The Experts Panel: CACNA1A-related Epilepsy, Elsa Rossignol, MD, MSc, FRCP, Chu Ste-Justine, University of Montreal
Sookyong Koh, MD, PhD, University Of Nebraska Medical Center & Children's Hospital & Medical Center
Closing Remarks
