Скачать или смотреть The Jackson Laboratory Rare Disease Translational Center

NOT SO RARE: Genetic diseases occur when a mutation arises in a gene that eliminates or adversely affects the protein that is normally produced, leading to dysfunction and disease. While these mutations may be rare for any particular gene, collectively they affect more than 350 million people globally. Unfortunately, most rare disease patients share a common trait: they are children who don’t have much time.

OUR VISION is to provide rare disease patients and families with an efficient path from diagnosis to therapy at scale. It is ambitious, but it is now within our capability. And when fully realized, we will be able help far more rare disease patients live fuller, healthier lives than previously possible.

Visit jax.org to learn more.