This gathering provided an opportunity for families to meet in real life for the first time after two years of creating deep personal bonds over virtual forums. It was also an opportunity for leading clinicians and researchers to share their work, ask questions, and connect with the true CACNA1A experts: Our families!
Over 100 people traveled from all around the US and from Canada, Australia, Europe and South America to attend. In addition, 75 people attended virtually, participating in real time.
If you missed this milestone event, you can still share the experience by watching recordings of the presentations.
CACNA1A Genetics: What We Know & What We’re Learning
Laina Lusk, MMSc, CGC, Children’s Hospital of Philadelphia; Liz Butler, MS, CGC, GeneDx
The Neurology & Clinical Management of CACNA1A-related Abnormal Eye Movement, Dystonia, and Imbalance
Joanna Jen, MD, PhD, Mt. Sinai; Aasef Shaikh, MD, PhD, Case Western Reserve University; Scott Grossman, MD, NYU Grossman School of Medicine
Update on the CACNA1A Natural History Study & Why Participation Matters
Wendy Chung, MD, Columbia University
Keynote Address
Leah Schust Myers, FamilieSCN2A Foundation
CACNA1A & Sleep – It’s Way More Than the Channel!
Joshua Rotenberg, MD, Houston Specialty Clinic
CACNA1A Variant Database & the Power of Data Aggregation for Therapeutic Development
Dennis Lal, PhD, Cleveland Clinic
Concluding Remarks
Pangkong Fox, PhD, CACNA1A Foundation
Foundation Update
Lisa Manaster, CACNA1A Foundation
CACNA1A-related Hemiplegic Migraine: What it is and What is being Done
Ingo Helbig, MD, Children’s Hospital of Philadelphia; Irene de Boer, MD, MSc, Leiden University Medical Center; Zameel Cader, DPhil, MRCP, Oxford Headache Centre, Oxford University Hospitals
Welcome to Day 2
Sunitha Malepati, CACNA1A Foundation
CACNA1A Therapeutic Strategies – Lessons from Other Ion Channels
Alfred L. George Jr., MD, Northwestern University
Due to the inclusion of unpublished research, the following two presentations were not recorded:
Functional Characterization (Gain of Function/Loss of Function) of CACNA1A Variants and Implications for Therapeutics Henry Colecraft, PhD, Columbia University
Characterizing an Allelic Series of Rare Missense Variants of CACNA1A in a Cohort of Patients with Severe Neurodevelopmental Disorders Jen Pan, PhD, Broad Institute, MIT
Thank You to our Sponsors:
In addition, this conference has been made possible by generous funding from the following organizations:
