Redefining rare disease research

Finding therapeutics for rare diseases is a long and challenging road filled with many pitfalls. For those impacted by these diseases, getting the support needed to isolate the genetic cause, and to do the research to identify potential therapeutics, is extremely costly and challenging, with limited options due to the rarity of the diseases.

But there is hope – with next generation sequencing technology, the ability to quickly model and understand these rare diseases, and increasingly sophisticated technologies to intervene quickly and effectively, resources are available. Working to shorten the road to therapeutics, the Rare Disease Translational Center at The Jackson Laboratory is driving this research pipeline to provide support for patients with these diseases, and more options for wider populations through the knowledge they gain.

Streamlining the rare disease research pipeline

Based in beautiful Bar Harbor, Maine, the Rare Disease Translational Center at The Jackson Laboratory prioritizes patient-centric preclinical research, working closely with patients, their families and patient advocacy groups to find the people most in need of the expertise they can provide. Through precision engineering and a highly developed mouse modelling program, the team is quickly able to get preclinical research up and running based on specific patient genetics. Based on this, the team applies expertise in cutting edge therapeutic strategies, including gene editing, gene therapy, ASOs and potentially drug repurposing to quickly find treatment options for patients.

This is of course just the first stage and making therapies available to patients, even with the growing rate of FDA approvals for genetic therapies on compassionate grounds, requires close collaborations with other organizations. The RDTC’s centralized system provides partners with seamless access to mouse design, generation, characterization, and pre-clinical assessment of lead candidates. With over 30 collaborative engagements, the Center is driving progress in rare disease research and paving the path to the clinic.

The future of critical therapeutics

Treating rare diseases and changing and saving lives is no small feat – but The Jackson Laboratory is also working to go beyond this. The work being done today to understand these simpler, easier to isolate diseases, will ultimately provide us a better understanding of more complex diseases and open up possibilities for critical therapeutics for cancer, Alzheimer’s, heart disease and more.

To learn more about the Rare Disease Translational Center at The Jackson Laboratory, please visit