DSF Supports the Development of an AI-powered Dravet Ontology

Dravet Syndrome Foundation (DSF) is excited to announce support and funding for a new special research project. DSF will support Dr. Satya Sahoo and Dr. Jeffrey Buchhalter to develop a Dravet Ontology. DSF is funding $240,000 over the next 2 years to support this effort.

An ontology works as a framework to show connections and relationships between words and can be used to derive information from existing data sources, as well as help identify places were key information and research is missing to form a connection. This Dravet-specific ontology would build off of the existing Epilepsy Ontology previously developed by Dr. Sahoo, but will add in terms that might be specific or unique to this diagnosis, as well as incorporating terms from animal and cell models to help tie in basic research with clinical research and terms.

The ultimate goal of these ontologies is to provide the framework for artificial intelligence (AI) analyses of existing data and literature. As the information and research about Dravet syndrome continues to grow, it becomes increasingly difficult to search every information source, but with AI these deep searches to find information related to a specific question becomes easier. Including information in the ontology related to existing model systems of Dravet syndrome (like fish, mice, cells) will allow for analysis of the connections between concepts studied in those systems and data in human patients. The ontology provides a common expert framework with which to classify and explain existing information. 

Drs. Sahoo and Buchhalter will work with DSF and a group of experts in basic and clinical research related to Dravet syndrome to build out the Dravet Ontology and test it. We hope this project will create a useful publicly available tool that propels research using cutting edge AI technology that may also eventually support patient care and health system management of this complex disease.

Read on to find out more about the researchers behind this project and find a summary of this project in their own words. 

Development of an AI-powered Dravet Syndrome Ontology 

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 Lead Scientists Behind the Project:

Satya Sahoo, PhD, 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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