Rare Disease Research Resources at the Rat Genome Database.
Mary L KaldunskiJennifer R SmithKent C BrodieJeffrey L De PonsWendy M DemosAdam C GibsonG Thomas HaymanLogan LamersStanley J F LaulederkindKetaki ThoratJyothi ThotaMarek A TutajMonika TutajMahima VediShur-Jen WangStacy ZacherMelinda R DwinellAnne E KwitekPublished in: Genetics (2023)
Rare diseases individually affect relatively few people, but as a group they impact considerable numbers of people. The Rat Genome Database (RGD; https://rgd.mcw.edu) is a knowledgebase that offers resources for rare disease research. This includes disease definitions, genes, quantitative trail loci (QTLs), genetic variants, annotations to published literature, links to external resources and more. One important resource is identifying relevant cell lines and rat strains that serve as models for disease research. Diseases, genes, and strains have report pages with consolidated data, and links to analysis tools. Utilizing these globally accessible resources for rare disease research, potentiating discovery of mechanisms and new treatments, can point researchers toward solutions to alleviate the suffering of those afflicted with these diseases.