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Rare disease research resources at the Rat Genome Database. Genetics 2023 Aug 09;224(4)

Date

04/30/2023

Pubmed ID

37119810

Pubmed Central ID

PMC10411567

DOI

10.1093/genetics/iyad078

Scopus ID

2-s2.0-85167481442 (requires institutional sign-in at Scopus site)   3 Citations

Abstract

Rare diseases individually affect relatively few people, but as a group they impact considerable numbers of people. The Rat Genome Database (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.

Author List

Kaldunski ML, Smith JR, Brodie KC, De Pons JL, Demos WM, Gibson AC, Hayman GT, Lamers L, Laulederkind SJF, Thorat K, Thota J, Tutaj MA, Tutaj M, Vedi M, Wang SJ, Zacher S, Dwinell MR, Kwitek AE

Authors

Melinda R. Dwinell PhD Professor in the Physiology department at Medical College of Wisconsin
G. Thomas Hayman PhD Research Scientist II in the Physiology department at Medical College of Wisconsin
Anne E. Kwitek PhD Professor in the Physiology department at Medical College of Wisconsin
Stanley J. Laulederkind Research Scientist II in the Physiology department at Medical College of Wisconsin
Monika Tutaj Research Scientist II in the Physiology department at Medical College of Wisconsin
Mahima Vedi Research Scientist I in the Physiology department at Medical College of Wisconsin
Shur-Jen Wang Research Scientist II in the Physiology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Animals
Databases, Genetic
Genome
Rare Diseases
Rats