A few months after being designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD), CHOC, in partnership with the University of California, Irvine (UCI) Health, is preparing for its first big event.
The Inaugural CHOC and UCI Rare Disease Symposium & Family Conference will bring together some of healthcare’s brightest minds in rare disease clinical care and research on Friday, March 11, 2022, from 10:30 a.m. to 3 p.m. (PST). Register here.
Symposium host Dr. Jose Abdenur, chief of the division of metabolic disorders and director of the metabolic laboratory at CHOC, is also the director of the CHOC/UCI NORD Center of Excellence. He works closely with Dr. Virginia Kimonis, a professor in the Division of Genetic and Genomic Medicine in the Department of Pediatrics, Neurology and Pathology at UCI.
“The symposium is not only for researchers,” Dr. Abdenur said. “We’re trying to target a broad audience of basic researchers, pediatricians, and families. It’s meant to appeal to all.”
A CHOC Grand Rounds tied to the event will be held on March 9. Speakers Rebekah Barrick, genetic counselor, and Kathryn Schwan, genetic counselor, will discuss “Challenges of Newborn Screening: The Genetic Counselors’ Experience.”
More than 150 expected
The symposium is expected to attract more than 150 participants. In addition to NORD, the event also is being sponsored by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.
Two families will share their stories at the virtual event and Dr. Marshall Summar, director of the Division of Genetics and Metabolism at Children’s National Hospital in Washington, D.C., will be the keynote speaker.
“I’ll be talking about near and just-over-the-horizon developments in caring for rare disease patients,” said Dr. Summar, who developed and launched the world’s first Rare Disease Institute (RDI) at Children’s, which is located on the Children’s National Research & Innovation Campus, a first-of-its-kind pediatric research and innovation hub in the nation’s capital.
“I’ll be talking about things like the NORD Centers of Excellence program, how we’re using technology more and more, and how the field of medical genetics has changed so it can become a technology leader,” he added.
A national and international authority on rare diseases, Dr. Summar said CHOC’s reputation continues to grow in this area.
“CHOC is really emerging as one of the leaders in rare disease in the clinical genetics field,” Dr. Summar said. “The programs that have been built there and the emphasis on caring for patients with genetic rare diseases has really made CHOC and UCI a West Coast hub because of all the good work they’re doing.”
Rare Disease hubs on both coasts
Children’s National is the major East Coast player in the 31 pediatric healthcare systems nationwide that make up the NORD Centers of Excellence.
Dr. Summar, past chairman of NORD, was instrumental in developing the NORD Centers of Excellence. He and Dr. Abdenur have worked together for more than 10 years and met when Dr. Abdenur, who is from Argentina, invited him to a Latin American rare disease conference in Colombia. Dr. Summar has continued teaching in many Latin-American meetings ever since.
Both share a passion for helping families living with a rare disease and are hopeful that the new NORD Centers of Excellence alliance will streamline the process for families seeking help, as well as lead to an increase in the number of multi-center rare disease clinical trials and more educational programs like the March 11 symposium.
They believe the alliance also will result in closer collaboration across the medical community and thus lead to new treatment guidelines, best practices, and knowledge sharing.
“I love mysteries and the journey of trying to discover new things,” said Dr. Abdenur of his passion for rare disease research and clinical care. “For me, it’s all about getting answers for the families.”
Dr. Summar has been studying rare diseases since 1985. He will speak on “Rare Diseases and New Models of Care Delivery, Technology, Centers of Excellence, and What’s Next.”
“These are some of the most special patients and families you will find on the planet and it’s been my privilege to work with them,” he said. “It’s probably one of the most intellectually stimulating fields for anybody, a combination of solving mysteries and figuring out the best care – every day brings something new.
“But what really drew me to the field was the patients. There’s a need to develop care models for them that work.”
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% of rare diseases lack an FDA-approved treatment.
Most rare diseases are diagnosed in the pediatric population, but many remain unrecognized until adolescence or adulthood.
For more information on the NORD Rare Disease Centers of Excellence program and the full list of centers, visit the program website.
Learn more about research at CHOC