Case Study: Care-for-Rare Foundation accelerates rare disease diagnosis with Neo4j

Care-for-Rare Foundation identifies rare childhood diseases with Neo4j using data from 2,500 children

The Care-for-Rare Foundation, based at the Dr. von Hauner Children’s Hospital, faced a significant challenge in diagnosing rare pediatric diseases. Their researchers struggled to integrate and analyze vast, disparate biological datasets, including genomic, proteomic, and clinical data, using a relational database. The complex SQL queries required were unsustainable and performed poorly, hindering their race against time to find diagnoses for critically ill children. They turned to the Neo4j Graph Database to build a new solution.

Using Neo4j, the foundation implemented a Clinical Knowledge Graph (CKG) to connect and analyze multiomic data. This solution enabled researchers to uncover complex relationships between data points, such as linking genetic mutations to disease symptoms. The knowledge graph currently integrates data from 2,500 pediatric patients and tracks over 8,000 rare diseases. Neo4j has enhanced the likelihood of identifying diseases, contributing to the hospital's ongoing efforts to speed up diagnosis and develop targeted, life-saving treatments for children worldwide.

Care-for-Rare Foundation