We are ready to be your trusted partner in advancing rare disease research. Our research platform enables partners to work closely with the best thinkers in the rare disease space. Drawing on decades of expertise in mouse model work, we bring efficiency and innovation to the forefront.
We are proud to partner with experts from across the globe to achieve our mission and we want to work with you. The Center collaborates with:
We welcome proposals for partnerships and nominations for diseases to study. If you share our passion for advancing rare disease research, the Rare Disease Translational Center is eager to explore opportunities with you. Together, let's make a lasting impact in the pursuit of breakthroughs for rare diseases.
Some (but not all!) of our collaborations and partnerships are described below.
“The Jackson Laboratory partnership is central to everything that we are doing pre-clinically and is actually one of the big differentiators for our company. Instead of simply contracting the mouse work out to someone what we're doing is really bringing the best thinkers of how to use mouse models into our programs…and that is just a game changer for us”
-David Goldstein, CEO of Actio Biosciences
Actio aims to bring meaningful therapies from one to many, by leveraging its human genetics platform to find relevant disease targets. Our partnership focuses on evaluating targets and disease-relevant phenotypes in mouse models of rare disease. Work at the RDTC is critical for hypothesis driven testing to support lead selection for the Actio programs.
Learn more about Actio Biosciences, Inc.
“Because we are pursing a whole portfolio of different therapeutic strategies in parallel, we really do need a hub to keep all of those projects working and communicating with each other and we have really found that Hub in JAX”
-Nina Frost, Co-Founder of Hope for Annabel and Mom of Annabel
The Rare Disease Translational Center is working with the foundation and taking “three shots on goal”, testing in parallel three therapeutic approaches, Anti-sense oligonucleotides (ASOs), Gene Therapy, and Gene editing. Our lead scientist, has become an expert in this platform and these models enabling the foundation to scale and test therapies side by side.
Learn more about Cure AHC & Hope for Annabel
“Without hesitation this incredible organization got to work on KIF1A. We couldn't have accomplished this without their generous support. These scientists make a difference in our lives and in the lives of every family affected by rare disease. Thank you JAX.”
-Luke Rosen, KIF1A.org
Collaboration with Kif1a.org has been integral to our mission, as we've successfully accessed, engineered, and comprehensively studied mouse models of Kif1a-associated neurological disorders. Through deep phenotyping, we've identified key symptoms in mice that serve as informative indicators for testing the efficacy of potential therapies.
Multiple sulfatase deficiency is caused by mutations in SUMF1. We were contacted by Amber Olsen, Executive Director of the United MSF Foundation and mother to Willow, an affected daughter to develop preclinical models for Sumf1 deficiency. Two preclinical models were generated, A277V and S153P, corresponding to clinical A279V and S155P, respectively. Additionally, we imported a floxed mouse strain generated by the KOMP consortium to develop conditional KO mouse models. Our proof-of-concept work with gene therapy in these models enabled the Bespoke Gene Therapy Consortium funding opportunity. These models are now available for the broader research community to utilize.
Learn more about Multiple Sulfatase Deficiency Foundation
“This toolbox of mouse models is helping to catalyze the development of treatments and cures.”
-Monica Coenraads, Rett Syndrome Research Trust
Mutations in a gene called MECP2 give rise to Rett Syndrome, a neurological disorder that occurs predominantly in girls and to a much lesser extent in boys.
The Rett Syndrome Research Trust (RSRT), a non-profit research organization dedicated to the development of curative therapies, has worked with us to centralize and engineer a collection new mouse mutant strains, all containing clinically associated mutations in MECP2. Generating these mutations independently on the same genetic background will allow a systematic evaluation of Mecp2 disease phenotypes and time-course in the mouse. The models are now crucial tools in a new platform for assessing next-gen precision medicine, with gene editing approaches, with the goal to advance one lead candidate through a successful investigational new drug (IND) application.
Learn more about Rett Syndrome Research Trust
The mission of the Simons Foundation Autism Research Initiative (SFARI) is to facilitate the diagnosis, treatment and understanding of autism spectrum disorders. We were approached by Alan Packer, Ph.D. and Marta Benedetti, Ph.D., who are both senior scientists at SFARI, to develop conditional null alleles for four genes for which the mouse models were either unavailable, associated with restrictive licenses or present on an unwanted genetic background. These genes CHD8, ARID1B, POGZ and GRIN2B are associated with clinical autism. Critical exons were identified for the mouse homolog for each gene and flanked with loxP sequences elements. All four conditional mutants are available for distribution.
Learn more about Simons Foundation Autism Research Initiative
“We started on a Rosie mouse and very soon[after] we go into our first group of mice with an ASO that we developed for Rosie's disease”
-Casey McPherson, Founder of To Cure a Rose Foundation and Rose's Dad
Our work with Casey McPherson and To Cure a Rose Foundation, started with a nomination. With TCAR we engineered two HNRNPH2 mouse models, a common variant and Rosie's specific variant, with the end goal of testing Anti-sense oligonucleotides. Our lead scientist has worked tirelessly to characterize the new model and identify outcomes that are robust and clinically relevant to test the efficacy of lead ASOs. This collaboration brings together several groups in Academia, Biotech, and Pharma, to accelerate the path from model to Investigational New Drug (IND) application.
Learn more about To Cure a Rose Foundation
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