The National Organization for Rare Disorders (NORD®) has designated UC Davis Health as a NORD Rare Disease Center of Excellence. The distinction recognizes UC Davis Health's leadership in providing expert, multidisciplinary care and advancing research for the more than 30 million Americans living with rare diseases.

"UC Davis Health is proud to join a network of top academic and medical organizations working to advance knowledge and care for patients with rare diseases," said Bruce Hall, the interim vice chancellor of human health sciences and chief clinical officer for UC Davis Health.

Comprehensive treatment model

UC Davis Health has a comprehensive treatment model. It offers the full spectrum, from diagnosis to novel treatment development and use.

For example, the Precision Genomic Program offers whole genome sequencing and develops new mouse models for rare genetic disorders. It works to advance precision treatments catered to a patient's specific case.

"Our goal is to leave no patient behind," said Suma Shankar, chief of the Genomic Medicine Division in the Department of Pediatrics and director of Precision Genomics. "We work with families to identify genetic conditions and provide them with the most advanced therapies currently available. We also find them resources to make sure they are well taken care of. It becomes a life-long relationship."

Shankar is a professor in the Departments of Pediatrics and Ophthalmology and is affiliated with the UC Davis MIND Institute and UC Davis Children's Hospital.

Shine Arslanianwas born with two rare conditions that required more than a dozen surgeries at UC Davis Health.

"We care for people of all ages, from fetal to pediatric to adult. We also study and treat all kinds of conditions that range from fragile X syndrome to rare cancers to Huntington's disease," said developmental and behavioral pediatrician Van Kim Ma. Shankar and Ma serve as co-directors of the UC Davis Health Center of excellence.

The Genomic Medicine division provides care 24/7 for 365 days for individuals with rare and ultrarare genetic disorders.

Leadership in gene therapy development and clinical trials

UC Davis scientists and clinicians are at the forefront of research to help prevent, diagnose and treat rare diseases. They are pioneers in developing and testing gene and stem cell therapies for rare and inherited disorders. For example, researchers from the Stem Cell Program and UC Davis MIND Institute are leading studies to test stem cell gene therapy for Angelman syndrome, Dup15q syndrome, and ADNP syndrome.

Wang Lab at UC Davis Health is a prime research hub in stem cell therapy and gene editing.

UC Davis Health is also home to nationally recognized programs and centers that study and treat rare and ultra-rare diseases. The Gene Therapy Center, part of UC Davis Institute for Regenerative Cures, is one of the few treatment centers nationwide delivering gene therapy for patients with Duchenne muscular dystrophy.

UC Davis researchers are also leading various clinical trials - including those for rare autoimmune and respiratory diseases - and studies on rare neuromuscular diseases and KCNT1-related epilepsy. These researchers are supported by many specialized genomics clinics, including:

• Autism Genomics Clinic
• Metabolic and lysosomal storage disorders
• Connective Tissue Disease Clinic
• Genetics related and Neurological and Developmental Disorders Clinic

Andrew Rodriguez receiving an infusion of the first-ever gene therapy for treating Duchenne muscular dystrophy for pediatric patients.

The NORD Rare Disease Centers of Excellence Network

The NORD Rare Disease Centers of Excellence Network now includes 46 institutions across 28 states and Washington, D.C. These institutions work together to shorten diagnostic journeys, expand access to care, train the next generation of rare disease experts and accelerate groundbreaking research.

Through a coordinated national network, UC Davis Health is partnering with NORD and all NORD Rare Disease Centers of Excellence. The objective is to scale the model of rare disease care and research, bridging clinical and specialty expertise gaps across institutions and state lines to deliver better outcomes for patients and their families.

"NORD is proud to welcome UC Davis Health to our network of prestigious institutions driving breakthroughs and expanding the frontlines of rare disease care and research," said Pamela K. Gavin, NORD chief executive officer. "Together, we are ensuring that everyone living with a rare disease, regardless of condition or location, can receive a timely diagnosis, access expert care and participate in cutting-edge research."

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