JAX strives to advance rare disease research and treatment options

For the past six years, the JAX Rare Disease Translational Center has worked with dozens of rare disease foundations to create custom mouse models that represent rare medical conditions, the majority of which present in young children.

In May 2022, JAX appointed Cathleen (Cat) Lutz, Ph.D., M.B.A. as Vice President of the Rare Disease Translational Center, marking an important step forward in its commitment to rare disease research. The expansion positions the Center to play an integral role throughout the entire rare disease odyssey, from diagnosis to research to drug development. The Center also collaborates closely with biotech and pharmaceutical companies to accelerate the path to drug discovery for these debilitating conditions. By taking a more holistic approach, the Center will make a significant impact on the experience of those living with rare diseases.

The Center has empowered JAX to take “broader steps, bolder steps, and bigger steps to be part of this patient community,” Lutz says.

In this short video, we invite you to learn more about the Center and to meet some of the families who have directly benefitted from JAX’s rare disease research efforts.