As part of the NORD network, Cedars-Sinai joins a select group of 46 institutions in the United States, all working together to shorten diagnostic timelines, expand access to care and train the next generation of rare disease experts.

“This designation underscores Cedars-Sinai’s unique expertise in rare diseases and reinforces our commitment to our patients, who often struggle to find providers familiar with their conditions,” said Joyce So, MD, PhD, chief genomics officer at Cedars-Sinai. “Through the NORD network, we will be able to share knowledge, resources and clinical expertise to help bridge gaps in care and improve patient outcomes both in the U.S. and globally.”

A rare disease, by definition, is any disease that affects 200,000 people or fewer.

According to the National Institutes of Health, an estimated 10,000 rare diseases, such as Duchenne muscular dystrophy and Marfan syndrome, affect millions of people in the United States. Nearly 1 in 10 people in the U.S. are diagnosed with a rare disease, and about half of these patients are children.

“People with rare diseases often face long, uncertain diagnostic journeys, and receiving a proper diagnosis can take five to 10 years,” said So, medical director of the newly established Center for Genomic Medicine at Cedars-Sinai Guerin Children’s.

There are often no established standards of care for these conditions due to limited funding and research, and more than 90% of rare diseases have no treatment approved by the U.S. Food and Drug Administration.

The recognition from NORD strengthens Cedars-Sinai’s role as a hub for clinical trials and genomic research, helping accelerate the development of innovative therapies for rare genetic diseases. So, along with Saquib Lakhani, MD, director of the Early Detection Program at Guerin Children’s, will serve as co-director of the NORD Rare Disease Center of Excellence.

“NORD is proud to welcome Cedars-Sinai to our network of prestigious institutions driving breakthroughs and expanding the front lines of rare disease care and research,” said Pamela K. Gavin, chief executive officer at NORD. “Together, we are ensuring that everyone living with a rare disease can have shorter diagnostic journeys regardless of condition or location and receive timely care.”

The Center for Genomic Medicine will focus on growing the utilization of genetics and genomics across Cedars-Sinai Health System, with experts using whole-genome sequencing and other leading-edge technologies to study genes and variants linked to rare diseases. By analyzing each individual’s unique genetic profile, experts can help provide early insight into genetic risks for disease, detect inherited conditions earlier, help clinicians tailor diagnostic strategies and provide personalized, patient-centered treatment plans.

“Families dealing with rare conditions deserve timely answers and access to innovation, and Cedars-Sinai has a longstanding commitment to excellence in rare diseases, from clinical care to translational research to advocacy,” Lakhani said. “The NORD Center of Excellence designation recognizes our existing expertise and will help us build a supportive community of clinicians, researchers and families that will make it easier for patients to find support.”

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