While researchers have made great progress in learning more rare diseases and developing treatments for those rare diseases, the exact cause of many rare diseases is still unknown, consequently most rare diseases still have no treatments yet. The FDA Office of Orphan Products Development (OOPD) evaluates scientific and clinical data submissions from sponsors to identify and designate products as promising for rare diseases and to further advance scientific development of such promising medical products. FDA orphan drug designations as an incredible orphan drug resource is publicly accessible to support scientific research and clinical practice. To better understand the rationale directing the drug approval towards evidence-based drug discovery, we propose to assess the designations by identifying and analyzing their underlying scientific evidence from the GARD integrative knowledge graph, developed in our previous study. The Genetic and Rare Diseases Information Center (GARD) was established in 2002 to provide up-to-date information for approximately 7,000 genetic and rare diseases, and GARD is currently managed by the Office of Rare Diseases Research (ORDR) within the National Center for Advancing Translational Sciences (NCATS). The GARD integrative knowledge graph includes diverse types of data, not only drug relevant data, such as, the FDA orphan drug designations and Inxight Drugs, but also disease and gene related data, including GARD, Orphanent, OMIM, Disease Ontology, GHR, GO, Ontology of Genes & Genomes, and etc. In this study, we will systematically explore the GARD integrative knowledge graph to collect and analyze underlying scientific evidence for those approved designations. Subsequently we will discover potential new usages of approved drugs for rare diseases by learning patterns derived from the above step.

Underlying scientific evidence discovery for FDA orphan drug designations from the GARD integrative knowledge graph: Towards drug discovery for rare diseases

2019 Fall National Meeting

The official archive and repository for all ACS Meetings & Expositions abstracts and select posters or presentations.