Cutting-Edge Institute to Advance Rare Disease Care, Research

Children’s National Health System has announced the formation of the Children’s National Rare Disease Institute (CNRDI) to advance the care of children and adults with rare genetic diseases.

The institute is the first to receive the designation of Center of Excellence for Clinical Care for Rare Diseases from the National Organization for Rare Disorders (NORD). According to a press release, the CNRDI will aim to improve the quality and longevity of life for rare disease patients through specialist care, the development of new treatments, and the creation of advanced databases.

Although an estimated 1 in 10 Americans has a rare disease, families can struggle to find knowledgeable specialists and effective therapies for rare illnesses. The CNRDI, therefore, will serve as a key resource for families searching for answers.

“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,” said Kurt Newman, MD, president and chief executive officer of Children’s National, which is the world’s largest healthcare provider for children with rare diseases.

Located in Washington, DC, the CNRDI will be run by Marshall Summar, MD, who is currently chief of genetics and metabolism at Children’s National and chairman of the board of NORD. He voiced optimism that the CNRDI could offer more treatment options and provide hope for families of children with rare diseases.

A major component of the CNRDI is the research and development of new therapies. The outcomes from these trials will be compiled in an advanced database maintained in collaboration with the NORD natural history/registry program.

“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,” Summar said in the announcement.

In accordance with its designation as a Center of Excellence, the CNRDI will spread knowledge about rare diseases by educating clinicians, genetic counselors, researchers, and other healthcare professionals about the latest advances in the field.

“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,” said Peter L. Saltonstall, president and CEO of NORD.