Yanji Xu is a program director in NCATS’ Division of Rare Diseases Research Innovation, where he is leading the Rare Diseases Informatics Program (RDIP). RDIP aims to build informatics infrastructure for rare diseases and provide a framework to answer rare diseases research questions. RDIP is working to advance the Genetic and Rare Diseases (GARD) Information Center ontology database to support the rare diseases research community. GARD provides free, comprehensive, plain-language information on rare and genetic diseases to the public and is accessible through both the GARD website and contact center. Xu also is involved in development of data-sharing infrastructure within the Rare Diseases Clinical Research Network (RDCRN), a multidisciplinary international program administered by the division. The RDCRN has more than 200 participating sites in 17 countries and more than 100 patient advocacy groups as research partners, and it conducts research on approximately 200 rare diseases.
Prior to joining NCATS in August 2020, Xu was the director of the Nevada Center for Bioinformatics and manager of the Cancer Informatics Core at the Moffitt Cancer Center. He has extensive experience in both bioinformatics and clinical informatics.
Xu earned his Master of Science and doctorate degrees in biomedical sciences from Albert Einstein College of Medicine and a master’s in computer science from New York University.
Xu’s research interests include algorithm development in -omics data analysis, data modeling for precision medicine, artificial intelligence in rare diseases diagnosis and treatment, and data sharing and integration.