There are two cornerstones to the Foundation’s mission, finding a cure for citrin deficiency and providing life-long support to citrin deficiency patients. We believe that a multi-disciplinary, innovative, and long-term approach will deliver breakthrough treatments and address the well-being of citrin deficiency patients holistically. Therefore, we seek to work with top scientists, researchers, and physicians who are in related fields around the world to solve this medical problem together.
We have developed the following list of objectives to achieve this:
- Identify patients with Citrin Deficiency (CD) worldwide
- Study the natural course of disease in large patient cohorts
- Improve the diagnosis of CD
- Understand the basic science and pathogenesis of the disease
- Explore the benefit of existing therapies
- Develop new therapies
- Support affected patients and their families
