California Center for Rare Diseases at UCLA named a ‘Center of Excellence’ in national collaborative organization

UCLA’s center joins the National Organization for Rare Disorders to improve care, advance research and increase awareness
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The California Center for Rare Diseases at UCLA has been designated as a NORD Rare Disease Center of Excellence, becoming one of 40 U.S. academic medical centers selected to be a part of the first-of-it-kind national network of U.S. medical institutions dedicated to diagnosing, treating, and researching all rare diseases. The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between rare disease experts across the country to help meet the unmet needs of more than 25 million Americans living with a rare disease.

“This is an important step for our center, and we believe our membership in the National Organization for Rare Diseases will help support families in California and nationwide as they seek answers for their children and family members,” said pediatrician Dr. Stanley Nelson, director of the California Center for Rare Diseases at UCLA, which opened in 2019 because of the strong ongoing work at UCLA in rare diseases including the innovative NIH-funded Undiagnosed Diseases Network at the UCLA David Geffen School of Medicine.

Nelson, the Dr. Allen and Charlotte Ginsburg Chair in Translational Genomics and distinguished professor of pathology and laboratory medicine, human genetics, pediatrics, neurology, and psychiatry at the UCLA David Geffen School of Medicine, previously helped build the Center for Duchenne Muscular Dystrophy when his son was diagnosed with the rare genetic disease.

“We estimate there are more than 3 million patients with rare diseases in California,” Nelson said. “Many can live their entire lives without a diagnosis and therefore have little hope of effective treatment. Our researchers have improved diagnostic capability and search for new therapeutic approaches to rare genetic diseases,  and we hope to continue to improve our capability in the network to  find answers for patients and their families. When we can determine theexact genetic cause, that provides critical information to the whole family and can lead to therapeutic insights..”

Unlike other more common serious diseases like cancer and heart disease, people living with rare diseases face many challenges in finding a diagnosis and accessing quality clinical care.  Because patient numbers battling a specific rare disease are so small (fewer than 200,000), physician expertise and research and development funds are sorely lacking. As a result, 95% of the more than 7,000 different rare diseases are without treatments. 

“Right now, far too many rare diseases are without an established standard of care. The Rare Disease Centers for Excellence Program will help set that standard – for patients, clinicians, and medical centers alike,” said Ed Neilan, Chief Scientific and Medical Officer of NORD. “We are proud to announce California Center for Rare Diseases at UCLA as a NORD Rare Disease Center of Excellence and look forward to their many further contributions as we collectively seek to improve health equity, care, and research to support all individuals with rare diseases.”

UCLA’s center, part of the UCLA Institute for Precision Health, targets many types of rare conditions including, genetic disorders, neurodevelopment disorders, cancer predisposition, metabolic disorders, skeletal dysplasias, muscle diseases and immune disorders. It provides access to clinical trials, specialized registries for specific diseases, genetic testing, and innovative treatments. Clinicians and researchers are working together to develop new therapies and next-generation bioinformatics and molecular diagnostic tools.

“The California Center for Rare Diseases has established itself as a leader in the diagnosis and treatment of rare disorders. The Center of Excellence designation and collaboration, a testimony to the hard work and vision of Dr. Nelson and his team, will help create an even more powerful resource for children and families who look to us for hard-to-find answers,” said Dr. Daniel Geschwind, professor of Human Genetics, Neurology and Psychiatry at UCLA, who directs the UCLA Institute for Precision Health.

The NORD Rare Diseases Center of Excellence designation is a three-year certification.

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