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.
JAX has teamed with Lovelace Biomedical, Exemplar Genetics, Iontox and the University of Pennsylvania to win a new $17M contract with the...
The genetic study of rare diseases is giving us insight into how to examine and treat more common diseases, said JAX experts...
Two new mouse models created to study neurological developments in Snyder-Robinson Syndrome to advance global understanding of this rare...
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?
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...
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.
What should healthcare professionals do to incorporate genomic medicine into patient care? Here are the keys to genomic risk...
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...
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...
There are more than 7,000 rare (also known as orphan) diseases affecting over 350 million people worldwide. Developing new therapies for...
JAX Professor Robert Burgess and collaborators are developing personalized gene therapy for a Texas child suffering from a neuromuscular...