JAX cares about rare
Article | February 24, 2025
More than 400 million people around the world are living with a rare disease. In the United States, a rare disease is defined as one that impacts fewer than 200,000 people. Because so few people suffer from these diseases, they’re often overlooked and treatments can be elusive. The Jackson Laboratory is changing that.
Through its Rare Disease Translational Center (RDTC), JAX is driving genomic discoveries that bring hope to patients and their families. The RDTC aims to empower the global biomedical community by developing tools and treatments for many of the more than 10,000 rare diseases that are known to exist.
In 2019, rare diseases cost nearly $1 trillion in the United States, according to a study from the EveryLife Foundation for Rare Diseases, a staggering burden for families who have already had their lives turned upside down by a rare disease diagnosis. With few resources available, these families are often forced to lead their own search for treatments and cures, balancing caring for their loved ones and becoming de facto medical and scientific experts overnight.
For families navigating the complexities of rare diseases, hope often feels out of reach. That’s where the RDTC steps in – turning hope into action through cutting-edge research and personalized scientific discovery.
Collaborating with families and foundations, the center develops genetically-engineered mouse models that mimic patients’ rare disorders. These models are then used to test potential therapies. Having led more than 100 programs over the years, created over 70 novel mouse models and worked with over 40 families, the RDTC is a leading research engine and resource for the entire rare disease community.
At the forefront of this work are the RDTC study directors. These scientists dedicate their careers to finding solutions for families affected by rare diseases. Their work is a testament to why JAX cares about rare – because behind every rare disease is a family searching for answers.
Hear from some of our study directors below.