California Center for Rare Diseases at UCLA

Rare Diseases are defined as chronic diseases that affect only 0.05% of the population or less. There are over 7000 known rare diseases, and taken together, they affect around 8% of the world’s population. In California, that means over 3 million patients have a rare disease. Worldwide, the prevalence is over 500 million patients. The vast majority of these diseases are caused by genetic mutations and have no treatments. Further, each disease is so rare that most doctors are unaware of these diseases and many patients go years without a diagnosis. Comprehensive genetic testing is necessary to diagnose, yet remains inaccessible to many Californians. There is a tremendous, untapped opportunity to advance the diagnosis and treatment of patients with rare diseases in California and facilitate discovery of new diseases.

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The Institute for Precision Health and David Geffen School of Medicine at UCLA has thus launched in 2019 the California Center for Rare Diseases at UCLA, which will transform the lives of patients with rare diseases by discovering the genetic causes of their diseases; caring for them compassionately through innovative treatments; offering clinical trials and other treatments aimed at ameliorating or curing their disorder; and offering education and advocacy. We enhance the mission of the Institute for Precision Health (IPH) at UCLA by deepening our understanding of genetic and epigenetic factors that lead to rare diseases. This effort builds on over a decade of work transforming the landscape for rare diseases at UCLA including the establishment of the Center for Duchenne Muscular Dystrophy in 2007, the Center for Autism Research and Treatment in 2006, the Clinical Genomics Center and Clinical Exome Sequencing in 2011,  the Undiagnosed Disease Network Clinical Site at UCLA in 2014, transition of the International Skeletal Disease Registry to UCLA in 2018, and a breadth of activity in rare disease understanding, clinical trials, and improvements in coordinated care that are impacting patients lives.  We offer personalized medical care for each patient (children and adults) based on genetic and research tests, including repurposing drugs for individual use and running clinical trials, and with strong integration with laboratories both on and off campus, we are making long-lasting, transformative changes in the field of rare diseases

California Center for Rare Diseases at UCLA

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