Rare disease, broad impact: Why JAX cares about rare

Individually rare but collectively common, about one in 10 people in the United States are affected by a rare disease — the same as the percentage of the population diagnosed with diabetes. These conditions are often caused by genetic changes that are difficult to interpret, poorly represented in existing datasets, and understudied in much of the world. Many rare diseases are severe and the large majority have no approved treatment.

Because patient populations are small and scientific understanding is often limited, rare diseases are frequently overlooked by traditional research and drug development models. Families are left navigating fragmented care systems, limited expertise, and long diagnostic odysseys. In 2019 alone, rare diseases cost nearly $1 trillion in the U.S., according to the EveryLife Foundation for Rare Diseases — a staggering burden for families already carrying immense emotional and physical strain.

While common diseases involve hundreds of interacting genes and environmental factors, rare diseases often begin with one disrupted gene. By focusing on those small genetic disruptions, researchers can trace disease mechanisms with precision to understand how specific genes influence health.

This approach has already transformed medicine. Rare mutations in the PCSK9 gene, for example, led to the development of cholesterol-lowering drugs now used by millions. Discoveries that begin in rare disease research ripple outward into treatments for common conditions like heart disease, cancer, diabetes, and neurodegenerative disorders.

A rare disease may only affect a small group of people, but rare disease research can accelerate progress for everyone.

A rare lens at JAX

The cornerstone of JAX’s rare disease research is the Rare Disease Translational Center (RDTC), which partners directly with families, clinicians, and foundations to translate genetic discoveries into potential therapies. The RDTC employs an efficient pipeline to  engineer precision cell and mouse models that mirror human rare diseases, allowing researchers to study disease mechanisms and test cutting-edge treatments in systems that closely reflect patient biology. With in-house therapeutic development programs encompassing gene replacement, gene editing, and ASO strategies, the RDTC is poised to support patients with rare disease throughout the preclinical space.

To date, the dedicated research at the RDTC has led to more than 80 research programs, creating more than 70 novel disease models, and collaborating with more than 60 families and foundations to find treatments for these devastating diseases.

But rare disease research at JAX extends beyond one center. Across its campuses and labs, scientists study genetic variation, disease modifiers, resilience, and biological pathways that shape how disease develops and why people with the same mutation can experience vastly different outcomes.

In the video below, Nadia Rosenthal, scientific director at JAX, talks about why studying rare disease can offer such valuable insights on the larger human condition.

While rare diseases have traditionally received less attention and funding, Rosenthal argues that they should be prioritized not just for the sake of patients with these conditions, but because they offer unparalleled insight into how human biology and disease really work.

“Rare diseases often give us a clear window into the fundamental workings of biology, and what we see through that window can tell us about much more widespread conditions,” she says.