An Integrated Natural-History, Imaging, and Care-Delivery Platform Illuminates Epilepsy Phenotypes in Chromosome 8p Disorders
Abstract number :
1.505
Submission category :
4. Clinical Epilepsy / 4C. Clinical Treatments
Year :
2025
Submission ID :
1259
Source :
www.aesnet.org
Presentation date :
12/6/2025 12:00:00 AM
Published date :
Authors :
Presenting Author: Lauren Chaby, PhD, MS – Project 8p Foundation
Kaiti Syverson, BS – Project 8p Foundation
Jacob Borello, BS – Project 8p Foundation
Aleah Martin, BS – Elizabethtown College
Jennifer Legault-Wittmeyer, PhD, MS – Elizabethtown College
Bina Maniar, MBA – Project 8p Foundation
Rationale: Chromosome 8p disorders carry a high risk of difficult-to-treat epilepsy, yet systematic data remain scarce. The Project 8p Foundation established a multi-modal 8p Natural History Study (NHS) to characterize the 8p community and is launching a complementary Centers of Excellence (CoE) to accelerate phenotyping, biomarker discovery, and precision care.
Methods: Our IRB-approved NHS enrolls individuals with 8p rearrangements (n = 230 to date). Longitudinal data streams include curated medical records, caregiver-reported outcomes, multi-omics profiles, and 3T brain MRI. Our epilepsy survey maps seizure types and frequency and is linked to the 8p Brain Atlas. MRI were centrally processed (FreeSurfer) and manually inspected for volumetrics and cortical-subcortical parcellation.
Results: Seizures occur in approximately one third of individuals with 8p rearrangements, depending upon the type of rearrangement. Emerging evidence points to consistent bilateral hippocampal atrophy, representing the first documented medial-temporal structural signature in 8p. Fusion of survey and imaging layers associated hippocampal atrophy with epilepsy. The NHS-Brain Atlas-CoE ecosystem creates a continuously learning platform: data captured at the point of care instantly refine research hypotheses, while research outputs feed back into everyday clinical decision-making. The model is scalable to other genetic epilepsies and provides an attractive substrate for AI-assisted outcome prediction, drug-repurposing screens, and adaptive clinical trials.
Conclusions: By uniting patient-reported outcomes, high-resolution imaging, and molecular profiling within a living longitudinal infrastructure, Project 8p has revealed a novel hippocampal atrophy phenotype and mapped seizure patterns in 8p disorders. The integrated NHS, Brain Atlas, and CoE network provide a scalable platform for biomarker validation and therapeutic trials. Collaboration with the AES community will accelerate translation of these insights into targeted interventions for this understudied genomic epilepsy.
Funding: This research was supported by funding from Project 8p Foundation and our community of donors and supporters. We express our deepest gratitude to the 8p heroes, caregivers, and families in the Project 8p community for their contributions, including the donation of biosamples and their invaluable time. Their support was necessary to generate the datasets on chromosome 8p disorders essential to this research. We have a patient-centric commitment to fostering impactful research, connecting scientific and clinical communities, and improving the lives of individuals with 8p-related disorders.
Clinical Epilepsy