NOT SO RARE: Genetic diseases occur when a mutation arises in a gene that eliminates or adversely affects the protein that is normally produced, leading to dysfunction and disease. While these mutations may be rare for any particular gene, collectively they affect more than 350 million people globally. Unfortunately, most rare disease patients share a common trait: they are children who don’t have much time.
OUR VISION is to provide rare disease patients and families with an efficient path from diagnosis to therapy at scale. It is ambitious, but it is now within our capability. And when fully realized, we will be able help far more rare disease patients live fuller, healthier lives than previously possible.
To make this vision a reality, JAX’s Rare Disease Translational Center was established to understand the molecular underpinnings of disease symptoms, identify pathways that can be targeted therapeutically, and assess the safety and efficacy of candidate drugs and therapies in biologically accurate mouse models of disease. Led by Cathleen (Cat) Lutz, Ph.D., MBA, who has decades of experience investigating a wide range of rare diseases, the Center investigates newly diagnosed ultra-rare genetic diseases that affect only a few people worldwide as well as more commonly known conditions such as Duchenne Muscular Dystrophy and Friedreich’s Ataxia.
As diagnostic sequencing advances our knowledge of patient mutations, the need for therapy-focused research grows. JAX’s decades of inquiry into mammalian genetics has yielded invaluable knowledge about thousands of genes, as well as what happens biologically when the gene product is lost or changed. JAX has formidable genetics expertise and insight, as well as unprecedented resources for interrogating gene function and modeling human genetic diseases in mice. The Center can determine if a mouse model for a particular rare disease already exists and use it effectively. If no model is available, one can be developed carrying accurate patient-specific mutation(s) in rare disease-associated genes.
The Center is focused on playing an integral role throughout the entire rare disease odyssey – from diagnosis to research to drug development. The Center builds upon JAX’s strong foundation of research success and resources to pave the path for future breakthrough treatments and make direct contributions to clinical progress. In recent years, the work of Lutz and her colleagues helped lay the foundation for the successful clinical trials of Spinraza, the first FDA-approved drug to treat children (even newborns) and adults with spinal muscular atrophy (SMA).
With advances in sequencing and diagnostics, many more patients are receiving causative diagnoses more quickly. But that’s only the first step. Rapid advances in research now allow us to understand genetic mechanisms, test therapeutic strategies and determine how to deliver candidate therapies (including gene therapies) to patients. Because of this, we can take the crucial next step: develop, test and implement effective clinical treatments.
The work cannot be done in isolation, so the Center collaborates with a variety of partners in biomedical and clinical research, hospitals and medical institutions as they diagnose rare diseases, the biotechnical and pharmaceutical industries to strategize and tailor therapeutics with the aim of accelerating the path to drug discovery, and foundations and patient groups seeking cures for specific rare diseases. These partnerships provide essential insight into patient genetics and symptoms, ensuring the development of clinically relevant experimental platforms. The Center also provides expertise with therapeutic strategies, such as mechanisms of delivery to the right cells and tissues, in addition to testing candidate therapeutics.
