WASHINGTON – Children's National Health System, the nation’s largest provider of care for children with rare genetic disorders, announced it has formed the Children’s National Rare Disease Institute (CNRDI), a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.
The CNRDI will focus on developing standards of care for patients with rare disease along with advancing rare disease research and knowledge gathering. Designated by the National Organization for Rare Disorders (NORD) as its first Center of Excellence for Clinical Care for Rare Diseases, the goal of the new institute is to improve the life span and quality of life of rare disease patients. NORD is the leading independent organization dedicated to the identification, treatment and cure of all 7,000 rare diseases.
Led by Marshall Summar, MD, Chief of Genetics and Metabolism at Children’s National and current Chairman of the Board for NORD, the CNRDI aims to provide a medical home for patients and families seeking the most advanced care and expertise for rare genetic conditions that remain largely unknown to the general medical community.
"One of the chief challenges of 21st Century pediatric medicine is our continued inability to provide more help to children born with rare genetic diseases,” says Dr. Summar. “Collectively, these conditions impact one out of every 10 Americans and account for up to 40 percent of pediatric medical expenses.”
Dr. Summar adds that patients and their families endure an average of seven years before receiving a correct diagnosis—typically visiting up to eight doctors and often receiving two or three misdiagnoses. “Even upon diagnosis, treatment options remain scarce and a third of patients will die before their fifth birthday. Our goal is to change this trend,” he says.
According to the National Institutes of Health (NIH), any disease, illness or disorder that affects fewer than 200,000 people in the United States is considered to be rare. Currently, it is estimated that one in 10 Americans has a rare disease - approximately 80 percent of which are genetically based. Of the nearly 7,000 rare diseases known to exist, less than 500 - roughly five percent - have a known treatment approved by the U.S. Food and Drug Administration (FDA).
The testing and development of new therapies will be a key focus of the CNRDI. The geneticists at Children’s National will use systematic data models that track patient outcomes and treatment regimens to create an ever-expanding clinical knowledge base. The institute also intends to eliminate patient care gaps by providing training specific to rare diseases for clinicians, genetic counselors, nurses, researchers and allied health professionals.
“With our strong clinical expertise and research capabilities in rare diseases, Children’s National believes that the time and the need are ‘now’ to create a Rare Disease Institute,” says Kurt Newman, MD, President and Chief Executive Officer at Children’s National. “Coordinating the right care for rare disease patients at every stage of life is vitally important to their well-being and longevity. The Institute is unique in that it pulls together researchers and clinicians from many disciplines to develop and test innovative therapies and provide the best care for our children. These are kids with the most complex diseases that, up to now, have been resistant to effective treatment or cure.”
Because ongoing health data on rare disease patients are vitally important, the CNRDI will collaborate with the NORD natural history/registry program, developed with input from FDA and the National Institutes of Health (NIH), to advance monitoring databases for patient outcomes and disease. Currently, NORD represents more than 250 patient advocacy organizations and their patient communities.
“Children’s National is a leading medical provider for children battling rare diseases and we are pleased to designate them as NORD’s first Center of Excellence for Clinical Care for Rare Diseases,” said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD). “This marks a major step forward in establishing rare diseases as a clinical field of medicine, which helps our goal to accelerate research and the development of new treatments to help patients.”
According to Dr. Summar, by creating systems to capture and disseminate best care standards for small populations, the CNRDI can better address the needs of individuals affected by rare disease and help expand the culture of continual improvement in the field of rare disease.
“Our goal is to provide life-changing treatment and answers to families,” notes Dr. Summar.
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About Children’s National Health System
Children’s National Health System, based in Washington, DC, has been serving the nation’s children since 1870. Children’s National is ranked in the top 20 in every specialty evaluated by U.S. News & World Report; one of only four children’s hospitals in the nation to earn this distinction. Designated a Leapfrog Group Top Hospital and a two-time recipient of Magnet® status, this pediatric academic health system offers expert care through a convenient, community-based primary care network and specialty outpatient centers. Home to the Children’s Research Institute and the Sheikh Zayed Institute for Pediatric Surgical Innovation, Children’s National is one of the nation’s top NIH-funded pediatric institutions. Children’s National is recognized for its expertise and innovation in pediatric care and as a strong voice for children through advocacy at the local, regional and national levels. For more information, visit ChildrensNational.org, or follow us on Facebook and Twitter.
NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 250 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.