The Rare Disease Translational Center

Working with foundations and their associated team of basic and clinical researchers to generate custom mouse models with clinical mutations to treat and cure rare disease.

The JAX Rare Disease Translational Center works with rare disease foundations and their associated research teams to generate custom mouse models that represent rare conditions in order to pursue new therapeutic interventions. Using CRISPR/Cas9 precision genome engineering, the Center’s expertise has been in assessing the mouse models currently available for rare disorders, determining if new resources are needed and studying rare diseases through these models.

In 2022, the Center enlarged its focus to play an integral role throughout the entire rare disease odyssey – from diagnosis to research to drug development. Utilizing the resources of The Jackson Laboratory for Genomic Medicine based in Farmington, Conn., The Rare Disease Translational Center partners with hospitals and medical institutions as they diagnose rare diseases. The Center also collaborates closely with biotech and pharmaceutical companies to strategize and tailor therapeutics with the aim of accelerating the path to drug discovery for these debilitating conditions.

Taking a holistic approach, the Center is positioned to make a significant impact in the lives of those living with rare diseases.