First Institute Dedicated to Rare Diseases Opens in US

Megan Brooks

January 25, 2017

The Children's National Health System in Washington, DC, which is the world's largest provider of care for children with rare genetic disorders, has created the first center dedicated to advance the care and treatment of children and adults with rare genetic diseases.

The Children's National Rare Disease Institute (CNRDI) will collaborate with the National Organization for Rare Disorders (NORD), which has designated the institute as its first center of excellence for clinical care for patients with rare diseases.

Any disease, illness, or disorder that affects fewer than 200,000 people in the United States is considered to be rare. Currently, an estimated 1 in 10 Americans have a rare disease, most of which are genetically based. Nearly 7000 rare diseases are known to exist.

Unique Medical Home

"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," Marshall Summar, MD, chief of genetics and metabolism at Children's National and current chairman of the board for NORD, who will lead the CNRDI, said in a news release.

Marshall Summar, MD (Source: Courtesy of the Children's National Health System)

In an interview with Medscape Medical News, Dr Summar said the institute will provide a medical home for patients and families that offers the most advanced care and expertise for those with rare genetic disorders that remain largely unknown to the general medical community.

"Patients with rare diseases need a medical home. None of these patients really fit in your traditional clinical model," he noted. "At the end of the day, it's about taking care of patients who have diseases nobody else really knows what to do with."

The CNRDI will develop standards of care for patients with rare diseases and will work to advance research and treatment, with the ultimate goal of helping patients live longer with improved quality of life, Dr Summar said.

"Coordinating the right care for rare disease patients at every stage of life is vitally important to their well-being and longevity," Kurt Newman, MD, president and chief executive officer at Children's National, said in the release. "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."

Dr Summar noted that more therapies are available now for rare diseases than at any other time. "When I started in the field, there may have been three or four approved treatments for rare diseases. There are now more than 500. And about 50% of the drugs going through the FDA [the US Food and Drug Administration] right now are actually for rare disease, so there is a huge pipeline of treatments for these patients, but they still have to have a medical home," he explained.

The testing and development of new therapies will be a key focus of the CNRDI.

The CNRDI will also focus on the problem of delayed diagnosis, Dr Summar said. "Now, it can take on average 5 to 7 years to diagnose a rare disease. We want to work on building better algorithms from the initial presentation of the patient and determine what's the most efficient use of resources, like sequencing, so we can arrive at a diagnosis much faster," Dr Summar said.

"From a staffing standpoint, we are ready to go," he told Medscape Medical News. "Children's National already has a large clinical genetics program with 13 clinicians, 12 genetic counselors, as well as neurogeneticists and two biochemical nutritionists. In many ways, we have built the foundation for this. Now it's time to roll it out and move it forward."

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