Dr. Virginia Kimonis
“This is a wonderful important opportunity for the two hospitals [CHOC and UCI Medical Center] to work together and build on each other’s strengths in finding creative ways to help patients with one of the 7000 rare diseases with no treatment currently available,” says UCI’s Dr. Virginia Kimonis. UCI

Irvine, Calif., Nov. 4, 2021 — University of California, Irvine and Children’s Health of Orange County (CHOC) have been jointly designated a National Organization for Rare Disorders (NORD) Center of Excellence, joining a new and highly select group of 31 medical centers seeking to expand access and advance care and research for rare disease patients in the United States.

The NORD Center of Excellence program aims to foster the sharing of knowledge between experts across the country, connect patients to appropriate specialists regardless of disease or geography, and improve the pace of progress in rare disease diagnosis, treatment, and research.

Dr. Virginia Kimonis, professor of genetic and genomic medicine in the Department of Pediatrics, with appointments in neurology, pathology and medicine in the UCI School of Medicine, will serve as the lead researcher at UCI. Dr. Jose Abdenur, chief of the division of metabolic disorders and director of the metabolic laboratory at CHOC, will serve as the primary representative in the NORD Center of Excellence partnership.

“Receiving this designation will increase our visibility, but more importantly, will increase access to many rare disease patients who may not know where to go,” said Abdenur, whose division is involved in more than 30 clinical trials. “We at CHOC and UCI can improve clinical care and research for patients of all ages and backgrounds in Southern California, and collaborating with other NORD Centers of Excellence is a great opportunity to deliver transformational changes for the rare disease community.”

Kimonis is one of several UCI faculty members who provide genetics services at UCI, CHOC and Miller’s Hospital/Long Beach. Her lab at UCI has been a consistent trainer of the next generation of bench and clinical researchers studying rare and undiagnosed diseases, with a focus on rare neuromuscular disorders.

“Genetics has been a Cinderella specialty, with very little investment in rare diseases, however insights gained in understanding rare diseases has led to several treatment breakthroughs, which has also benefitted common diseases,” said Kimonis, who for many years has been working on research related to rare genetic diseases including mitochondrial and muscle disorders.  “Hopefully this designation will attract more resources and recognition, with the potential to find novel cures for rare disorders.”

She added: “This is a wonderful important opportunity for the two hospitals [CHOC and UCI Medical Center] to work together and build on each other’s strengths in finding creative ways to help patients with one of the 7000 rare diseases with no treatment currently available. This is absolutely a fantastic way forward for both institutions. I’m very excited.”

Meeting the challenge

People living with rare diseases frequently face many challenges in finding a diagnosis and quality clinical care. In establishing the Centers of Excellence program, NORD selected clinical centers across the U.S. that provide exceptional rare disease care and have demonstrated a deep commitment to serving rare disease patients and their families using a comprehensive, state-of-the-art approach.

UCI and CHOC were selected by NORD in a competitive application process requiring evidence of staffing with experts across multiple specialties.

Most rare diseases are diagnosed in the pediatric population, but many remain unrecognized until adolescence or adulthood. With the support of research administration, multiple other specialties perform basic and translational research to provide new solutions for rare forms of blood disorders, hydrocephalus, epilepsy, brain tumors, ulcerative colitis, muscular dystrophies, neurodegenerative disorders, leukemias, cystic fibrosis, hormone deficiencies, and others.

Faculty members in UCI School of Medicine’s Division of Genetic and Genomic Medicine work closely with faculty in perinatology, neurology, medicine, cardiology and other departments and are actively involved in clinical, translational, and basic science research to develop leading-edge therapies for rare diseases that extend into adulthood. Rare diseases studied at UCI include inclusion body myopathies, other neuromuscular disorders, Prader Willi Syndrome, rare tumors, rare eye diseases, as well as lysosomal, mitochondrial, ataxias, and other disorders.  

Setting the standard

Any disease that affects fewer than 200,000 people in the U.S. is considered rare, according to the National Institutes of Health. There are more than 7,000 rare diseases and between 25 million and 30 million Americans are estimated to be currently living with rare diseases. More than 90 percent of rare diseases lack an FDA-approved treatment. 

“Right now, far too many rare diseases are without an established standard of care,” said Ed Neilan, chief scientific and medical officer of NORD. “The Centers for Excellence program will help set that standard – for patients, clinicians, and medical centers alike. We look forward to many further contributions from CHOC and UCI as we collectively seek to improve health equity, care, and research to support all individuals with rare diseases.”

Abdenur will serve as a representative on the NORD Center of Excellence Advisory Committee. “My goal is to highlight the importance of both CHOC and UCI,” he said. “I will try to make sure that we capitalize on our strengths and conduct more clinical trials as we move forward.”

Kimonis said the NORD designation is a “wonderful and important opportunity” for CHOC and UCI Health to work together and build on each other’s strengths in finding creative ways to help patients with one of the 7,000 rare diseases with no treatment currently available.

UCI and CHOC’s new NORD designation will last for three years, after which the partner institutions will re-certify to meet the most up-to-date designation criteria.

For more information on the NORD Rare Disease Centers of Excellence program and the full list of centers, visit the program website.

About the University of California, Irvine: Founded in 1965, UCI is the youngest member of the prestigious Association of American Universities and is ranked among the nation’s top 10 public universities by U.S. News & World Report. The campus has produced three Nobel laureates and is known for its academic achievement, premier research, innovation and anteater mascot. Led by Chancellor Howard Gillman, UCI has more than 36,000 students and offers 224 degree programs. It’s located in one of the world’s safest and most economically vibrant communities and is Orange County’s second-largest employer, contributing $7 billion annually to the local economy and $8 billion statewide. For more on UCI, visit www.uci.edu. 

About Children’s Health of Orange County (CHOC): Affiliated with the University of California, Irvine, CHOC’s pediatric healthcare system includes two state-of-the-art children’s hospitals in Orange and Mission Viejo, a network of primary and specialty care clinics serving children and families in four counties, and several clinical programs of excellence providing the highest levels of care for the most serious pediatric illnesses and injuries, both physical and mental. CHOC’s research and innovation institutes are focused on translating real patient needs into real-world treatments so every child can live the healthiest and happiest life possible. To learn more, visit www.choc.org.

Media access: Radio programs/stations may, for a fee, use an on-campus ISDN line to interview UCI faculty and experts, subject to availability and university approval. For more UCI news, visit news.uci.edu. Additional resources for journalists may be found at communications.uci.edu/for-journalists.

About the UCI’s Brilliant Future campaign: Publicly launched on October 4, 2019, the Brilliant Future campaign aims to raise awareness and support for UCI. By engaging 75,000 alumni and garnering $2 billion in philanthropic investment, UCI seeks to reach new heights of excellence in student success, health and wellness, research and more. The School of Medicine plays a vital role in the success of the campaign. Learn more by visiting https://brilliantfuture.uci.edu/uci-school-of-medicine/.