Skip to main content

The Children's National Rare Disease Institute (CNRDI) is the first center of its kind that focuses exclusively on improving the care and treatment of children and adults with rare genetic diseases. Designated by the National Organization for Rare Disorders as its first Center for Excellence in Clinical Care for Rare Diseases, the aim of the CNRDI is to provide a medical home to patients and families seeking the most advanced care and experience in the treatment of rare genetic diseases.

Online Appointment Request Form

The experts at Children’s National Hospital give children and their families the best possible care with innovative medical techniques and family-centered healthcare services. Submit the form to become a patient at Children's National.

Contact Global Services

To get in touch with the Global Services team, please call +1-202-476-5779 or email.

Choosing Children’s National Hospital

    Genetic and Metabolic Care

    The path to finding the diagnosis of a rare disease can be long and emotionally challenging. At Children's National, our team provides accurate diagnoses and innovative and complementary treatments for children and their families who are affected by genetic disorders, as well as congenital anomalies or diseases involving metabolism. Under the leadership of Marshall Summar, M.D., one of the world's leading genetic medicine pioneers, we’ve created the largest clinical genetics program in the United States. The integral nature of our team also makes us a leading destination for the treatment of rare genetic disorders, including N-acetylglutamate synthase insufficiency, vitamin B12 methylation insufficiency and organic acidemia disorders.

    With more than 8,500 patient visits per year, we are proud of the complementary treatments we offer to families. Our team of world-renowned medical experts, biochemistry nutritionists and genetic counselors will care for your child's physical needs. The emotional, spiritual and mental health of your family will be supported by our team of social workers, nursery and pastoral specialists.

    We specialize in the treatment of a wide range of genetic and metabolic disorders, including:

    • Congenital anomalies
    • Down syndrome
    • Congenital metabolopathies
    • Abnormal screening for newborns
    • Lysosomal storage disorders
    • Urea cycle disorder
    • Metabolic disorders
    • Neurofibromatosis
    • Skeletal dysplasias
    • Family counseling
    • Genetic risk counseling
    • Cardiac genetics
    • Genetic syndromes
    • Genetic diseases in adults
    • Craniofacial anomalies
    • DiGeorge syndrome