Dr. Marshall Summar will lead a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases called the Children’s National Rare Disease Institute. The Institute 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 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. The Children’s National Rare Disease Institute 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, 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.
The testing and development of new therapies will be a key focus of the Institute. 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.”
“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. “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.”
“Our goal is to provide life-changing treatment and answers to families,” notes Dr. Summar.