There are 300 million people across the world with a rare disease, and up to 75% of those impact children. 3,000 children die every day from a rare disease, and only 5% of rare diseases have an FDA-approved therapy. These statistics are devastating, and the JAX Rare Disease Translational Center is poised to make a difference.
Our team brings nearly a century of experience in mammalian genetics, model generation, and therapeutic design and testing. With over 60 team members, we leverage this expertise to empower rare disease solutions and deliver targeted therapies from the lab to the clinic with speed and efficiency.
Led by the Vice President of the Rare Disease Translational Center, Cat Lutz, the RDTC is powered by its Ph.D.-level study directors, who manage portfolios of various rare diseases.
These lead scientists partner directly with families and patient foundations, academia, biotech and pharmaceutical companies to address the needs of the patient population.
Their work includes genetic engineering and disease model development, cellular profiling and screening, in vivo phenotyping and physiological testing, and more.
The study directors, along with the RDTC’s scientific investigators who are responsible for therapeutic development, are supported by project managers, lab managers, research assistants and technicians who conduct testing as well as manage the care and safety of our rare disease mouse models.
With over 25 years of experience in mouse genetics, Cat Lutz has focused her research efforts on patient organizations and families diagnosed with rare diseases. She serves as the Principal Investigator of multiple NIH sponsored programs including the Center for Precision Genetics, The Somatic Cell Genome Editing Center, and Mouse Mutant Research and Resource Center. As a neuroscientist by training, she has worked on models of the central nervous system such as Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis and Friedreich’s Ataxia. Lutz was awarded with a Rare Impact Award by the National Organization for Rare Disorders in 2021. Learn more about Cat.