The Genetic and Rare Diseases (GARD) Information Center was established in 2002 to provide up-to-date information for approximately 7,000 genetic and rare diseases. This resource, which is currently managed by the Office of Rare Diseases Research (ORDR) within the National Center for Advancing Translational Sciences (NCATS), has remained an important portal for patients, health-care professionals, and researchers seeking to understand the current state of genetic and rare diseases. Recent advances in our understanding of the genetic and molecular basis of disease have resulted in great progress toward effective management and treatment of rare diseases. To provide better insight into this progress, herein we describe our ongoing efforts to further develop GARD as a resource to encourage scientific research. Specifically, we are working to integrate GARD data with other data sources to identify treatments approved or in development for each rare disease. FDA approved drugs from FDA Orphan Drug Designations will be integrated along with mappings between GARD and ClinicalTrials.gov to highlight completed and ongoing trials for each disease. Treatments not identified through direct data mining can also be inferred via genetic factors, which are the underlying cause of most rare diseases. Ultimately, these treatment development profiles will be integrated into the GARD resource for public use.<br/>

Genetic and Rare Diseases (GARD) information center treatment profiles

2019 Spring National Meeting

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