Minor genetic anomalies can have catastrophic consequences. Some of the “simplest” of genetic diseases—with known defects in a single gene—are still incurable. And fatal.
It's where the mice are.
Director, GRS Repository/Senior Research Scientist Genetic Resource Science
Researches the molecular pathways of human degenerative muscle diseases.
International database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data.
Mice harboring spontaneous mutations have long been a major source for animal models of human genetic disorders, particularly mendelian diseases. The Mouse Mutant Resource maintains over 700 established mutant strains.
350 million people are affected by rare and orphan disease. The Rare and Orphan Disease Center conducts research to better treat these diseases.