Rare Genetic Diseases Expertise

California Center for Rare Diseases at UCLA

What is a rare disease?

Rare diseases are defined as chronic diseases that affect only 0.05% of the population or less. While rare diseases may appear to be individually rare, they are quite common globally. There are over 7, 000 known rare diseases which affect about 8% of the world’s population. The vast majority of these diseases are caused by genetic mutations and have no treatments. Most doctors are unaware of these diseases and many patients go years without a diagnosis, making the diagnosis and care of these patients a tremendous unmet need. 

What is the California Center for Rare Diseases at UCLA?

The California Center for Rare Diseases (CCRD) at UCLA collaborates with physicians, scientists and patients to transform the lives of patients with rare disease by:

  • Discovering the genetic causes of their diseases through the Genomic Characterization Program
  • Caring for them compassionately through innovative treatments
  • Offering clinical trials and other treatments aimed at ameliorating or curing their disorder
  • Offering education and advocacy.

View the video below to learn more:

Services

Genomic Characterization Program for Undiagnosed Diseases

The CCRD’s ultimate goal for this program is to find specific changes in the genome that are responsible for your symptoms and hopefully find a diagnosis. As a participant of this program, you will receive:

  • A comprehensive telemedicine consult with an expert UCLA physician
  • Whole genome sequencing for affected individual and applicable family members
  • Comprehensive RNA analysis
  • Ongoing secure storage of your data and samples to use for ongoing improvements in diagnosis
  • A written report of significant findings from the following activities:
    • Review and comparison of your specimens with up-to-date genomic databases
    • Review of your genome data by an expert UCLA panel
    • Recommendations for guide future care based on clinical assessment and findings

To enroll in the Genomic Characterization Program, please visit Become a Patient.

Treatment for Patients with Rare, Genetic Diseases

Our clinic offers personalized and advanced treatments to adult and pediatric patients with rare, genetic diseases. These treatments are guided by genetics and other biochemical testing. The clinical areas that our clinic provides treatment options for include but are not limited to:

  • Genetic Disorders
  • Immunological Disorders
  • Skeletal Disorders
  • Adult Neurogenetic Disorders
  • Duchenne Muscular Dystrophy
  • Pediatric Cancer Predisposition
  • Heart Disorders
  • Familial Mediterranean Fever
  • Childhood Neurodevelopment

If you or a family member have one of these rare, genetic disorders and would like to schedule a consult, please click on the link below: