Rare diseases are diseases with very low incidence. The exact incidence threshold that defines rare diseases differs from nation to nation.

Over 7,000 different types of rare diseases have been diagnosed. Combined, rare diseases impact around 350 million individuals globally.

Among all identified rare diseases, over 80% are hereditary, and 90% are linked with severe symptoms.

Despite significant investment in therapeutic development for rare diseases, there are no effective treatments for the majority of rare diseases and translational research for these diseases lags significantly behind research in other disease areas. Innovative mouse models of rare diseases are valuable tools for such research.

GemPharmatech has established models for multiple rare diseases including hemophilia, Duchenne muscular dystrophy, and many neurologically related rare diseases such as hemophilia A and progressive muscular dystrophy.