The University of Colorado Anschutz Medical Campus – home to Children’s Hospital Colorado, UCHealth University of Colorado Hospital and the CU School of Medicine – has been designated as a NORD Rare Disease Center of Excellence for its research and commitment to advance care for patients with rare diseases.
The new designation from the National Organization for Rare Disorders (NORD) was announced Nov. 4 and includes 30 other medical centers across the nation. Each center was selected by NORD in a competitive application process requiring evidence of staffing with experts across multiple specialties to meet the needs of rare disease patients and significant contributions to rare disease patient education, physician training and research.
“We are thrilled to be designated as a Rare Disease Center of Excellence by NORD,” said Dr. Matthew Taylor, Director of Adult Clinical Genetics at the CU School of Medicine. “As we are witnessing more tools to diagnose rare diseases and can see many novel treatments for rare diseases on the near horizon, we believe that the network of researchers and clinicians at UCHealth and Children’s Hospital Colorado will increasingly serve the needs of patients and families affected by rare diseases.”
“Recognition as a NORD Rare Disease Center of Excellence is a tribute to the high-quality care we provide across the mountain states region and across the nation, and we are proud for our patients to see even more evidence that they are receiving world-class healthcare in their own backyard,” said Dr. Shawn E. McCandless, a professor and head of the Section of Genetics and Metabolism within the CU Department of Pediatrics, and Chair of the Department of Genetics and Metabolism at Children’s Hospital Colorado, who led the application process on campus. “This is also a truly exciting opportunity to partner with other sites across the country to further enhance and refine care for patients with thousands of types of rare disorders.”
Both Children’s Hospital Colorado and UCHealth are involved in clinical trials for rare diseases and have programs dedicated to caring for individuals diagnosed with rare conditions, including Children’s Hospital Colorado’s recently established Precision Medicine program.
A search of the U.S. website clinicaltrials.gov shows more than 4,000 clinical trials on campus, a large number of which focus on rare disorders. Multiple gene and molecular therapy trials are currently recruiting patients at Children’s Hospital Colorado and on the campus. UCHealth will launch a gene therapy trial in the coming weeks for Danon Disease, a rare inherited genetic condition that can affect the heart, muscles, vision and learning abilities. Taylor, a medical geneticist, said the campus will be the third site worldwide to participate in the trial. Children’s Hospital Colorado is one of only a few sites in the U.S. treating novel genetic disorders with allele specific oligonucleotide therapies (ASO) that target an individual’s unique genetic variant.
The Colorado Center for Personalized Medicine provides opportunity for adult patients on campus to enroll in a biobanking project that promises to revolutionize clinical care and research by leveraging the existing Health Data Compass warehouse of clinical data that can be linked, with the consent of the individual, with DNA sequencing of all of their genes. Children’s Hospital Colorado is currently rolling out an exome-based DNA sequencing platform in its in-house laboratory that is bringing state-of-the-art genetic testing to their local laboratories. Recognizing that world class care focuses on each person as a unique individual, Children’s Hospital Colorado has dedicated multi-disciplinary clinics for children with rare diseases, involving just about every medical and surgical specialty at the hospital.
Any disease that affects fewer than 200,000 people in the United States is considered rare, according to the National Institutes of Health. There are more than 7,000 rare diseases and 25 million-30 million Americans estimated to be currently living with rare diseases. More than 90% of rare diseases lack an FDA-approved treatment.
“Right now, far too many rare diseases are without an established standard of care. The Centers of Excellence program will help set that standard – for patients, clinicians and medical centers alike,” said Ed Neilan, Chief Scientific and Medical Officer of NORD.
In addition, the average rare disease diagnosis can take six years and require up to 12 specialists and multiple medical tests. By designating and establishing a network of specialized centers and experts, NORD is bringing together leaders in the field from across the country to reduce the time to diagnosis and improve the availability and coordination of multi-specialty clinical care.
“Patients have difficulty finding providers who understand or recognize these conditions, which are not taught in medical school, nursing school or pharmacy school,” said Taylor. “Diagnosis is a real challenge. They often have a long wait period before they get diagnosed – sometimes several years or more. In addition, patients can often feel quite isolated. Fortunately, there are now dozens if not hundreds of clinical trials in various stages of development, such as immune-based therapy, gene therapy and small molecule-based therapy. That landscape is changing quite rapidly.”
“As we have learned from cancer research, defining the determinants of disease, whether they be genetic, environmental or the result of interactions between the two, all diseases will eventually be classified as rare diseases,” McCandless stated. “Diseases are as unique as the people who have them. We are proud of NORD’s recognition that at the University of Colorado Anschutz Medical Campus, we have a unique partnership and opportunity to diagnose and treat rare diseases, as well as common disease, from before birth, through childhood and into adulthood on a single campus.”
About the University of Colorado Anschutz Medical Campus
The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes, and two nationally ranked independent hospitals – UCHealth University of Colorado Hospital and Children’s Hospital Colorado – that treat more than two million adult and pediatric patients each year. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by over $650 million in research grants. For more information, visit www.cuanschutz.edu.
About Children’s Hospital Colorado
Children’s Hospital Colorado is one of the nation’s leading and most expansive nonprofit pediatric healthcare systems with a mission to improve the health of children through patient care, education, research and advocacy. Founded in 1908 and recognized as a top 10 children’s hospital by U.S. News & World Report, Children’s Colorado has established itself as a pioneer in the discovery of innovative and groundbreaking treatments that are shaping the future of pediatric healthcare worldwide. Children’s Colorado offers a full spectrum of family-centered care at its urgent, emergency and specialty care locations throughout Colorado, including an academic medical center on the Anschutz Medical Campus in Aurora, hospitals in Colorado Springs, Highlands Ranch and Broomfield, and outreach clinics across the region. For more information, visit www.childrenscolorado.org or connect with us on Facebook, Twitter, Instagram and YouTube.
About UCHealth
UCHealth is an innovative, nonprofit health system that delivers the highest quality medical care with an excellent patient experience. UCHealth includes 26,000 employees, 12 acute-care full-service hospitals and hundreds of physicians across Colorado, southern Wyoming and western Nebraska. With University of Colorado Hospital on the CU Anschutz Medical Campus as its academic anchor and the only adult academic medical center in the region, UCHealth is dedicated to providing unmatched patient care in the Rocky Mountain West. Offering more than 150 clinic locations, UCHealth pushes the boundaries of medicine, providing advanced treatments and clinical trials and improving health through innovation.
This release originally appeared in the UCHealth newsroom.
April 4, 2024