Development of an AI-powered Dravet Syndrome Ontology

Satya Sahoo, PHD & Jeffrey Buchhalter, MD, PHD

Satya Sahoo, PhD – Case Western Reserve University
Jeffrey Buchhalter, MD, PhD – University of Calgary School of Medicine
Development of an AI-powered Dravet Syndrome Ontology
Special Collaborative Research Project – 2 years, $240,000

Grant Summary: Dravet Syndrome (DS) is a childhood epilepsy associated with severe cognitive, behavioral and life-threatening consequences. Although a significant amount of experimental data in available from model organisms and humans in both data repositories and clinical literature, existing methods to integrate and analyze these disparate data resources are limited in scale and functionality. Artificial intelligence (AI) methods such as ontologies and machine learning algorithms are ideal for complex analytics over big data, which can help in knowledge discovery and identifying new research studies that bridge the gap between model organisms and humans. We have already applied a combined epilepsy ontology and machine learning approach to analyze epilepsy neuropathology data, which resulted in high accuracy classification models. These initial findings suggest that AI methods can be used for automated analysis of basic science and clinical literature data to determine where there is similarities and differences between model systems and humans as well as indicate new experiments to characterize these relationships. We propose to extend the epilepsy ontology for Dravet Syndrome that together with machine learning algorithms can automatically index clinical literature and enable analysis of basic science data.

About the Investigators: Satya Sahoo, Ph.D., is an Associate Professor of neuroinformatics with academic appointments in the Departments of Population & Quantitative Health Sciences, Neurology, Computer & Data Sciences, and the Cleveland Institute for Computational Biology at Case Western Reserve University. He has a strong background in artificial intelligence and led the development of several neuroscience ontologies, including a metadata ontology for the NIH-funded NeuroBridge project, an epilepsy ontology with funding from NIH/NINDS, and an ontology for Parkinson’s Disease.

Jeffrey Buchhalter MD, PhD, is Adjunct Professor of Pediatrics at the University of Calgary School of Medicine. Based upon his work in Sudden Unexpected Death in Epilepsy (SUDEP) as a pediatric epileptologist, he would like to facilitate the collaboration of basic and clinical scientists to improve outcomes for all children and adults with the epilepsies.

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