Integrative Rare Disease Profile Creation via NormMap to Advance Rare Disease Research

Given the nature of rare diseases, lack of data and standards impedes research in rare diseases. A method to improve data interoperability is necessary to allow data reuse, integration, and exchange in rare disease. A computational package named NormMap was developed to identify rare disease related data from various types of resources in free text via semantic annotation with rare disease terms from NCATS Genetic and Rare Diseases (GARD). In this preliminary study, four different sources which include NIH funded projects, clinical trials, PubMed articles, and Reddit subreddits, were applied to generate rare disease profiles by extending and exploring NormMap. Those profiles would offer a complete view of rare diseases from different aspects, funding agencies, patient groups, scientific research, to ultimately advance rare disease research, which is demonstrated in our case study.