RARe-SOURCE®

RARe-SOURCE® aims to collect and combine several data sources to build an integrated bioinformatics resource. This will address the challenges in rare disease research.

About RARe-SOURCE®

Honeycomb Diagram Depicting Different Data Types Connected To Rare Diseases – Genes, Proteins, Disease, Literature, Chemistry, Variants

These concepts are all connected and play vital roles in the development and progression of rare diseases. Once data are harmonized and combined, scientists can find patterns and similarities among different but related data inputs. This can help scientists generate new ideas about treating these diseases and bringing more treatments to all people more quickly.

The challenge for researchers, patients and other community partners is accessing and managing data from discrete sources where they are siloed and not organized or harmonized. This makes it difficult to form connections among rare diseases.

The goal is to extract, annotate and combine disease-related data from reputable sources, including peer-reviewed scientific literature. This will help end-users make molecular links and use data to spur the discovery and growth of treatments for rare diseases.

The approach is to design a searchable, accessible and user-friendly resource.

Infographic

RARe-SOURCE Infographic

Publications

Lyons, E.L., Watson, D., Alodadi, M.S. et al. Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus. BMC Genomics 24, 460 (2023). doi: 10.1186/s12864-023-09561-5

RARe-SOURCE® Website

RARe-SOURCE® is a website created by the NIH that offers data and tools to help researchers study rare diseases. It includes genetic information, details about genetic variants and links to diseases.