A national rare-disease center, in San Diego's backyard
UC San Diego and Rady Children's Health were named a NORD Rare Disease Center of Excellence on September 21, joining a 49-center national network.
LA JOLLA: UC San Diego and Rady Children's Health were designated a NORD Rare Disease Center of Excellence on September 21, joining a national network of 49 designated centers across 28 states and Washington, D.C., affiliated with more than 150 institutions. The designation, from the National Organization for Rare Disorders, recognizes the region's unusual concentration of pediatric genomics and connects local experts to a national network working to improve diagnosis, care, and research for more than 30 million Americans living with rare diseases.
The infrastructure behind the designation was built over a decade. The Rady Children's Institute for Genomic Medicine, on the campus of Rady Children's Hospital, pioneered rapid whole-genome sequencing for critically ill infants, delivering a preliminary diagnosis in under three days for medically urgent cases. Blue Shield of California became the first U.S. health plan to cover the test in March 2020.
What the designation buys
The designation is not a plaque; it is a set of obligations. The two institutions met NORD's benchmarks for comprehensive genetics and metabolic services, coordinated pediatric and adult care across specialties, rare-disease research, workforce training, and community education. Through the network's cross-institution case conferences, specialists have discussed nearly 90 complex rare-disease cases, drawing in more than 2,000 health care professionals, researchers, and trainees in shared learning.
For families, the practical stakes are time. Reaching an accurate rare-disease diagnosis can take five to seven years or longer, involving numerous specialists and repeated testing, and even after diagnosis, families can struggle to find expert care or clinical trials. The network exists to collapse that distance. San Diego's designation makes the region's pediatric genomics program a node in the national infrastructure for answering the hardest diagnostic questions in medicine.
None to date. The Tribune corrects errors promptly and transparently. Read our corrections policy.
