Dr. Ingo Helbig: The neurology of 15q13.3: two decades of discovery | 2026 Reed's Reach Conference

Dr. Ingo Helbig, a child neurologist who worked on some of the first epilepsy studies of 15q13.3, explains what is known about seizures in 15q13.3: the typical pattern of absence seizures, what that looks like on an EEG, how seizures can change over time, and why the picture can differ within one family. He then explains what it takes to get a condition ready for clinical trials, drawing on other genetic conditions: asking families first, building natural history data, using existing medical records, and EEG biomarkers. Speaker: Dr. Ingo Helbig, Associate Professor of Neurology and Pediatrics, Children's Hospital of Philadelphia and the University of Pennsylvania. Chapters 0:00 Introduction and the CHOP neurogenetics program 1:38 Early epilepsy studies and family variability 5:38 The EEG signature: absence seizures 7:56 How strong a risk factor is the deletion? 9:10 Seizure types and how they change over time 11:42 What a study of half a million people shows 14:16 Natural history and trial readiness 17:12 Lessons from Dravet, Rett, STXBP1 and SYNGAP1 21:03 Starting with families: disease concept model 22:37 Building a natural history study 25:05 Trial simulation and real-world data 30:37 EEG biomarkers and getting trial ready Recorded at the Reed's Reach for 15q13.3 Family Conference and Research Symposium, October 3, 2026, Philadelphia. The talks are for education and are not medical advice for any individual. Please talk with your own doctors about your family's care. Question-and-answer sessions are shared with families registered with OpenReach, our family registry. See reedsreach.org/conference. New to a 15q13.3 diagnosis? Start at reedsreach.org/about-15q