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Rare disease partnership between CHOC, UCI Health receives $3.2 million award

 

A research partnership between CHOC and UCI Health has been awarded a $3.2 million grant from the National Institutes of Health (NIH) to build a network of referral centers in Southern California and several southwestern states to improve the diagnosis and treatment of rare diseases. UCI Health neurologist Changrui Xiao, MD, who holds board certifications in neurology, medical genetics and genomics, and medical biochemical genetics, is a principal investigator on the project.

The funding significantly expands the CHOC/UCI Health Southern California Undiagnosed Diseases Network (SoCal UDN), which plans to enroll 225 patients from primarily underserved populations over the next four years.

Rare and undiagnosed diseases have a negative impact on the quality of life of patients, who are left on the road of a psychologically challenging, expensive, and uncertain diagnostic odyssey that sometimes lasts years. In many cases, patients receive multiple wrong diagnoses, resulting in delayed or missed treatment.

 

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