UC San Diego & Rady Children’s Health Designated as NORD® Rare Disease Center of Excellence

Rady Children’s and UC San Diego join a first-of-its-kind national network of 49 designated Rare Disease Centers of Excellence across 28 states and the District of Columbia. Through affiliations with more than 150 academic medical centers, research institutions, and children’s hospitals, this world-class network works together to reduce time to diagnosis, expand access to specialists, train the next generation of rare disease experts, and accelerate research.

“Joining the NORD® Rare Disease Centers of Excellence Network marks a significant milestone in our commitment to addressing the complex and often unmet needs of individuals and families affected by rare diseases,” said Kristen Wigby, MD, director of the UC San Diego & Rady Children's Health San Diego Rare Disease Center of Excellence. “Through this collaboration, we are strengthening an integrated discovery-to-care model that connects groundbreaking research, genomic medicine and specialized clinical care. Our goal is to accelerate diagnosis, expand access to innovative therapies and improve long-term outcomes for patients across the lifespan.”

Wigby is an associate clinical professor of pediatrics at UC San Diego School of Medicine, associate medical director of the Rady Children's Institute for Genomic Medicine and a clinical geneticist at Rady Children's Hospital San Diego.

"The designation as a NORD Rare Disease Center of Excellence reflects the strength of the affiliation between UC San Diego School of Medicine and Rady Children's Hospital San Diego," said Gary Silverman, MD, PhD, associate dean for children's academic programs and chair of the Department of Pediatrics at UC San Diego School of Medicine and physician-in-chief and chief scientific officer at Rady Children's Hospital San Diego. "Delivering exceptional, compassionate clinical care to all of the children and families who depend on us is central to our shared mission. Our institutions function as one integrated team, uniting pediatric and adult expertise, genomic medicine, translational research under a single collaborative model. Being named a Center of Excellence validates that model and positions our integrated program to lead nationally in improving diagnosis, care coordination and research for the rare disease community."

"We're proud to welcome these newly designated Rare Disease Centers of Excellence, whose clinical expertise, research strength, and commitment to collaboration will strengthen this national network," said Pamela Gavin, NORD Chief Executive Officer. "By connecting leading institutions across the country, the NORD Rare Disease Centers of Excellence Network transforms individual organizational expertise into a shared national healthcare infrastructure that expands what is possible for millions of people living with rare diseases."

Connecting Rare Disease Expertise and Research Nationwide

More than 30 million Americans live with rare diseases. More than 10,000 rare diseases have been identified, and an estimated 250 additional conditions are identified each year. Yet clinical expertise and research remain fragmented, making it difficult for people to find appropriate specialists and research opportunities and for institutions to share the knowledge and data needed to accelerate discovery.

As an rare disease (RD) Center of Excellence (CoE),  UC San Diego and Rady Children’s will collaborate with rare disease experts across the country to discuss complex cases, share clinical and research knowledge, strengthen referral pathways, and advance research. Through cross-network case conferences, the RD CoE Network has discussed nearly 90 complex rare disease cases, engaging more than 2,000 health care professionals, researchers, and trainees in shared learning and collaborative problem-solving.

For people living with rare diseases, these connections can be critical. Reaching an accurate diagnosis may take five to seven years or longer and involve numerous specialists and repeated testing. Even after diagnosis, individuals and families may struggle to find expert care or opportunities to participate in clinical trials and other research. The NORD RD CoE Network helps bridge gaps in clinical expertise across institutions and state lines, making specialized knowledge more accessible.

Rady Children’s and UC San Diego earned their designation through NORD’s rigorous review process, meeting benchmarks for comprehensive genetics and metabolic services, coordinated pediatric and adult care across specialties, rare disease research, workforce training, and community education. To learn more about the NORD Rare Disease Centers of Excellence Network, visit rarediseases.org/center-of-excellence.

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