Stanford Medicine Children’s Health Receives Rare Disease Centers of Excellence Designation

For release: May 11, 2023

PALO ALTO, Calif. — Stanford Medicine Children’s Health has been named one of the National Organization for Rare Disorders (NORD) Rare Disease Centers of Excellence, which are dedicated to diagnosing, treating, and researching all rare diseases.

Stanford Children’s joins the first national network of 40 hospitals across the country that are caring for thousands of rare disease patients and are at the cutting edge of some of the biggest medical and scientific breakthroughs. Natalia Gomez-Ospina, MD, PhD, will serve as the Director for Stanford Children’s NORD Center of Excellence for Rare Disorders.

“No single organization can tackle caring for rare diseases alone,” says Dennis Lund, MD, Chief Medical Officer of Stanford Medicine Children’s Health. “It’s an honor for our teams at Stanford Children’s to be a part of a network to improve access to care for these families. We can help connect patients to specialists with the expertise that’s needed, regardless of what they’ve been diagnosed with or where they live, which is crucial to transforming their lives.”

A disease is considered rare in the United States if it affects fewer than 200,000 people nationwide. According to the National Institutes of Health (NIH), nearly 1 in 10 people, or about 30 million people in the U.S., have a rare disease. Two-thirds of them are children. The patients and their families face hurdles in finding a diagnosis and accessing quality clinical care because many of these complex conditions have no specific treatment.

“We have a culture at Stanford Children’s of pushing the envelope and looking at what can we do to take even better care of patients, so every child has the opportunity to thrive and live their fullest lives,” Dr. Lund says. “With millions of children and families facing the unknowns of their rare disease, we see our role in accelerating advancements in diagnosis and treatments for those who are navigating the challenges of their condition as incredibly important.”

Stanford Children’s was selected by NORD for this designation through a competitive application process, which looked at whether the medical center had experts across multiple specialties to meet the needs of rare disease patients, as well as its contributions to rare disease patient education, physician training, and research. For instance:

• Stanford Children’s provides individualized care to every patient with a rare disease. For example, the Stanford Children’s medical genetics team works to identify the genetic cause of the disease, which may help identify new treatment options. And some patients with rare diseases may benefit from only-at-Stanford clinical trials offered through the Stanford Medicine Center for Definitive and Curative Medicine. The Center helps bring research from the lab bench to the patient’s bedside faster, and is currently offering clinical trials for rare diseases including IPEX syndrome and Fanconi anemia.
• Traejen Kingston of Idaho was diagnosed with a rare autoimmune form of focal segmental glomerulosclerosis (FSGS), which required him to spend hours every week on a dialysis machine from ages 9 to 21. However, through an innovative procedure called DISOT, or dual immune/solid organ transplant, which was developed at Stanford, he is now completely off dialysis and doesn’t need to take immunosuppressive medication.

Please visit our website for more information about the programs at Stanford Medicine Children’s Health.

Media Contact

Katie Chen
KatChen@stanfordchildrens.org
(650) 465-4872