JAX Center for Precision Genetics

For more than eight decades The Jackson Laboratory (JAX) has been a catalyst for the modeling and study of human disease, primarily through research employing genetically well-defined laboratory mice.

The Jackson Laboratory Center for Precision Genetics (JCPG) seeks to extend this tradition using cutting-edge technologies and expertise to develop and disseminate new, precise animal models of incurable and genetically complex human diseases. The models incorporated into the program will be used to test therapeutics and their translation to the clinic, providing a complete preclinical program within the Center. The effort brings together a multi-disciplinary team—including geneticists and genetics technology experts, quantitative and computational biologists, clinical experts in specific disease areas, patient organizations and world leaders in the development of precision animal models of disease.

 Partnering together for personalized cures

Building new genetically modified mouse strains is easier than ever before thanks to advances in CRISPR/Cas9 technology. However, creating a new precise disease model that faithfully reflects the human disease conditions and is a suitable platform for therapeutic development is a much larger process that requires broad expertise in genome manipulation, mammalian biology, and mouse model phenotyping.

In addition, well-established mouse models continue to be challenging for many researchers to access due to licensing or other restrictions. These barriers to development of precise treatments for human disease require a holistic approach that brings together the expertise needed for creating, validating, and distributing new mouse models and community partners with clinical expertise and passion to bring new cures forward for various patient communities. The JAX Center for Precision Genetics (JCPG) is working to accelerate discovery of cures though an integration of our expertise with that of our community partners in order to do the following:

• Implement a streamlined process to solicit and evaluate nominations from the community of human disease-causing mutations for variant testing, model development, phenotyping and drug testing as part of the JCPG program.
• Generate patient-specific mouse models to validate the role of the specific variant in disease, to establish the strain as a faithful model of disease, and to serve as a platform for future preclinical testing needs.
• Work alongside community partners (clinicians and researchers) to validate the newly generated mouse strain for suitability as a high quality, precise surrogate for the target human disease using extensive genetic and phenotypic characterization. Our goal is to successfully convert the new mouse strain to a model for human disease.
• Distribute our new mouse models through JAX’s mouse repository to improve access to the global research community
• To support and collaborate with community partners and industry to develop and test therapeutic responses to promising treatments using newly created as well as established models of human disease

Partners can work with the JCPG at any of the various stages of the model development and therapeutic testing process. Our goal is to create an easy to access and scalable platform that integrates vast array of capabilities and services into a platform to support the broadest array of human clinical investigators and their patients.

Using our many years of experience generating new mouse models of human disease gained through the activities of the Rare and Orphan Disease Center  we hope to continue and expand our expertise and apply it to many other types of genetic diseases.

JAX’s Center for Precision Genetics (U54 OD030187) is led by Dr. Cathleen Lutz, Ph.D. and Dr. Stephen Murray and is funded by the NIH Office of Research Infrastructure Programs through the Office of the Director. Efforts at JAX are complemented by funded centers at Baylor College of Medicine and University of Alabama Birmingham .