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Rare Disease Research

A disease is called rare when it affects fewer than 200,000 people. Finding a doctor experienced enough to diagnose a rare disease is difficult. Learning no treatment exists can be devastating.

Collectively, rare diseases pose one of the most complex and urgent challenges of our time. Nearly 7,000 such conditions exist, affecting more than 25 million Americans — many of whom are children. Globally, an estimated 350 million people are living with — and in many cases dying from — these debilitating diseases. Historically, even the most gifted and diligent physician-scientists have faced daunting challenges in diagnosing and treating such diseases.

Advances in medical knowledge make this the perfect time to push for solutions to rare diseases and UCI Health’s contributions to that progress make us the ideal place to lead the charge in research that translates into treatments and cures. We have gathered a cadre of expert physician-scientists and are expanding the technology to explore the genetic causes and mechanisms of rare diseases.

The Kimonis laboratory at UCI Health is exploring the genetic causes and mechanisms of rare diseases. In order to discover new treatments and cures for several genetic disorders. A particular focus is rare neuromuscular, lysosomal and mitochondrial disorders. 

Please join us in supporting the Kimonis laboratory as they explore new techniques to accelerate rare disease research to seek answers, treatments, and cures. We invite you to join us in giving hope to people with rare diseases — and turning that hope into a new reality. With your support, UCI Health will revolutionize how rare diseases are researched, diagnosed, treated and prevented.

Support from friends like you is vital to our success.  We invite you to partner with us as we pave the way for a brilliant future in treating Rare Diseases.

Thank you for your support!

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Or you can contact us at james.yokelle@uci.edu.