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The Jackson Laboratory Announces New Rare and Orphan Disease Center

11/5/2013 10:47:39 AM

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Bar Harbor, Maine—Wednesday, Feb. 29, is international Rare Disease Day, and The Jackson Laboratory has a new Rare and Orphan Disease Center to address conditions that, while individually rare, collectively affect about one in 10 Americans, according to the National Association for Rare Disorders.

About 80 percent of rare diseases are genetic in origin, about half affect children, many are fatal, and very few have cures. Rare conditions are often described as “orphan” because they receive relatively little attention and investment from pharmaceutical companies. Treatments for rare diseases offer lower potential financial return on investment compared to drugs for more common, high-visibility conditions such as cancer and diabetes.

To address this major health issue, the nonprofit Jackson Laboratory has launched a new Rare and Orphan Disease Center to consolidate its research into the genetic basis of some of these conditions and to apply its specialized research resources to help scientists around the world in their search for new treatments for uncommon conditions.

“As part of the Laboratory’s mission to improve human health through our own research and to support the research of others, we develop, optimize and distribute hundreds of mouse models for rare genetic disorders such as Rett syndrome, cystic fibrosis, Down syndrome, Duchenne muscular dystrophy, spinal muscular atrophy and ALS,” says Cathleen Lutz, Ph.D., director of Mouse Models Repository in The Jackson Laboratory’s Genetic Resource Science group. “And many of our own scientists study the genetic causes of these and other rare conditions using the tools we provide.”

Lutz notes that developing better models—mice with the same genetic variations and clinically relevant features as patients with rare and orphan diseases—“is a key step to finding successful new treatments. It’s important that these models are well defined and readily accessible to the broader biomedical and pharmaceutical industry.”

The Jackson Laboratory is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center based in Bar Harbor, Maine, with a facility in Sacramento, Calif., a future institute in Farmington, Conn., and a total staff of about 1,400. Its mission is to discover the genetic basis for preventing, treating and curing human disease, and to enable research and education for the global biomedical community.


Joyce Peterson, 207-288-6058, The Jackson Laboratory

For information on automatic email delivery of news releases (journalists only), please send an email request for details to Please address other inquiries to

Media Relations, Communications Office

The Jackson Laboratory

600 Main Street

Bar Harbor, Maine 04609-1500

Phone: 207-288-6058 (journalists only)

Main Jackson Laboratory phone: 207-288-6000

Fax: 207-288-6076


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