The Jackson Laboratory is investing in the futures of people suffering from rare diseases with top-flight scientists, international networks, precision animal models, and next-generation genetics and genomics technologies.

We develop custom genetic tools that bring real home to families with rare diseases

When patient families search online for research programs in a specific rare genetic condition, JAX may be the only “hit” they get. That’s because JAX is an international resource for research in rare diseases, a role that includes developing and providing mouse models, data and drug-development services.

Neuroscientist Cat Lutz, Ph.D., is the director of the JAX Rare and Orphan Disease Center, and she works closely with many rare disease foundations and researchers to support their research and drug discovery goals.

Research by Lutz and her collaborators led directly to the development of Spinraza, the first FDA-approved drug to treat spinal muscular atrophy (SMA). Her team is developing new mouse models for multiple rare and orphan diseases, including a severe neurological disorder due to a mutation in a gene called KIF1A; Snyder-Robinson Syndrome, a rare developmental condition; and CMT4J, a variant of Charcot-Marie-Tooth disease.

“When you see kids with SMA actually walking and playing, who without treatment probably would not even be alive, that’s why we work so hard,” Lutz says.