Rare and Orphan Disease Mouse Models
Search for mouse models by human disease term.
Rare and orphan diseases affect fewer than 200,000 individuals in the United States, and nearly 700,000 rare diseases have been described to date. The Jackson Laboratory offers the world's largest collection of spontaneous, targeted, and transgenic mutant mouse strains, hundreds of which model rare diseases.
Rare and Orphan Disease Research Tools and Online Resources
Did you know that almost all of us have the sort of genetic mutations that cause rare genetic diseases?
Efficacy studies are performed by JAX on mouse models for these diseases: C57BL10.mdx and D2.mdx for DMD, DyW for CMD1A, and A/J for...
Families have banded together from across the globe to make awareness and research for SMARD a reality.
Genetic diversity should be accounted for in pre-clinical tests, and researchers need to select the right model system to mimic human...
A team from The Jackson Laboratory attended a Rare Disease Day 2016 event in Maine to help educate state legislators and staff about the...
JAX distributes well-characterized, preclinical mouse models to accelerate drug discovery for rare and orphan diseases.
We engineer new models and enhance existing models through genetic standardization and characterization to ensure reproducibility of data...
We partner with foundations, pharmaceutical and biotech companies, and other scientists to research treatments for uncommon...
JAX Professor Robert Burgess and collaborators are developing personalized gene therapy for a Texas child suffering from a neuromuscular...
This new video from The Cox Lab video offers an inside look at the research goals of Amy Hicks, a postdoctoral associate who is studying...
New research provides an intriguing therapy target for some forms of Charcot-Marie-Tooth disease type 2.
Cortney Lavorgna is a college student who is exploring the neuromuscular disease she lives with in a JAX research...
Over 30,000 peer-reviewed publications cite use of JAX® Mice strains. Hundreds of new papers referencing JAX® Mice strains are published...
Dr. Burgess is studying Charcot-Marie Tooth syndrome, a genetic neurological disorder that causes damage to the peripheral nerves, the...
Boosting synaptic efficacy may help alleviate symptoms for patients with a neurological condition called Charcot-Marie-Tooth type 2D...