Developing an Integrated Rare Disease Bioinformatics Resource to Determine Phenotype to Genotype Correlations

National Center For Advancing Translational Sciences

Investigators

Abstract

Two rare diseases that the TRND program has worked on previously, Creatine Transporter Deficiency (CTD) and Farber Disease (FD), are being used for the initial development of this integrated bioinformatics resource. During this period, the collaborative team captured CTD and FD data at the disease, pathway, gene, and chemistry levels, including variant-related phenotypic information, from existing biological informational sources. The team leveraged and adapted existing ABCS resources to build a software framework for data collection and analysis, implementing analytical and visualization tools to display the collected information in an easily digestible manner. There was progress towards the completion of the RARe-SOURCE / Rare Disease Bioinformatics Resource web application, including integration of rare disease information from the Genetic and Rare Diseases Information Center (GARD) and the disease harmonization database at NCATS to allow searches of any rare disease of interest. Several applications were incorporated into the web interface to provide a high-level overview on any gene associated with a rare disease. Visualization tools were customized and adapted to the web application to allow detailed visuals and interactive exploration of 2D/3D protein structures. Additionally, all published, manually curated literature on CTD/SLC6A8 and FD/ASAH1 gene data was fully integrated to provide high accuracy genotype-phenotype correlation data.