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Appointments:1-888-884-BEAR (2327)

Children's National Hospital logoChildren's National Hospital logoChildren's National Hospital logoChildren's National

Rare Disease Institute - Genetics and Metabolism

Call 202-545-2500
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Please note: We are now seeing patients at our new location on the Research & Innovation Campus, 7125 13th Pl NW Washington, DC 20012. View a map of directions (English PDF) to this location (Español) (PDF).

Our Providers

Our pediatric specialists provide personalized care for your child’s physical, mental and emotional health needs.

Meet the Team

Contact Information

For appointments, please call 1-888-884-BEAR (2327) and for information, call 202-545-2500.

If your child is an existing patient, you can schedule their appointments online through the MyChildrensNational patient portal.

AppointmentsPatient Portal

Our Programs

Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases. We 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.

With more than 8,500 visits annually and 12 physicians, Children’s National Hospital is home to the largest clinical genetics program in the United States.

We coordinate the multidisciplinary care of children with genetic, metabolic and undiagnosed disorders in collaboration with primary care physicians and specialists from other divisions at Children’s National. Additionally, every geneticist here works in concert with a genetic counselor to manage both the clinical and practical aspects of treatment. The research interests of our practitioners ensure the most timely and thoughtful care for our patients.

Services We Provide

    Inherited Metabolic Disorders Program

    Our Inherited Metabolic Disorders Program provides diagnostic testing, evaluation and management for patients with inborn errors of metabolism, as well as definitive testing and treatment for patients identified by newborn metabolic screenings. We are also nationally and internationally acknowledged as a leader in treating urea cycle disorders, genetic syndromes and lysosomal storage diseases. The well-rounded nature of the clinical team also makes Children’s National a noted destination for treatment of rare and ultra-rare metabolic disorders, such as NAGS and propionic acidemia.

    Making an Appointment: Information for Parents and Physicians

    About our service locations:

    Your visit may include:

    Members of the genetics team who may work with you may include:

    Things to know before your visit:

    Conditions We Treat

    Understanding your child's condition is an important step on your treatment journey. Learn about causes, symptoms and diagnosis for a variety of conditions, as well as unique treatments and research being performed at Children's National.

    View conditions we treat
    NORD logo

    Honored to be a NORD Center of Excellence

    Children's National was designated as the first Center of Excellence by the National Organization for Rare Disorders (NORD). This honor recognizes and encourages excellence in clinical care and patient support services for individuals and families living with a rare disease in the United States. Based on the success of our efforts as the pilot for this program, Children's has helped NORD develop standards and tools for this effort and we will remain as the anchor program. 

    Through this program, NORD aims to:

    • Reduce the time to reach an accurate diagnosis
    • Improve access to appropriate treatment and quality care
    • Ensure patients have input into the development and evolution of clinical care guidelines and treatment protocols
    • Increase the availability of data to support clinicians and researchers in the diagnosis and development of treatments for rare diseases  

    Learn more about NORD and search for rare diseases in its database.

    Questions?

    Appointments: 1-888-884-2327
    Rare Disease Institute Information: 202-545-2500
    Emergency: 202-476-5000
    Inherited Metabolic Disorders Information: 202-545-2531
    Newborn Screening: 202-545-2498

    Locations

    All Rare Disease Institute Locations

    Patient Stories

    • Feb 12, 2022

      Ryan A's Story

      Ryan has neurodegeneration with brain iron accumulation, or NBIA. Of the different types of NBIA, he has mitochondrial-membrane protein-associated neurodegeneration, or MPAN, a disease in which a surplus of iron accumulates in the brain and causes it to deteriorate. Tuba Alam, Ryan's mom, says that despite his condition, his goal in life is to help others like him find a cure so that they can live a full life.

    See Our New Space at the Research & Innovation Campus

    Take a tour through the Rare Disease Institute's new facility at the Research & Innovation Campus, where we see families and continue to research the most innovative treatments for rare diseases.
    Research and Innovation campus building at sunset

    A view of the Rare Disease Institute at the Children's National Research & Innovation Campus at sunset.

    Rare disease institute facilities

    A patient room.

    A patient room.

    Blue patient room.

    A patient room.

    Patient room with bed.

    Area where patients can be weighed and given an eyesight evaluation.

    An area where providers can check a patient's vital measurements.

    A consultation area at the Rare Disease Institute.

    A consultation area at the Rare Disease Institute.

    A consultation area with a couch and chair at the Rare Disease Institute.

    A consultation area with a couch and chair at the Rare Disease Institute.

    A consultation area at the Rare Disease Institute.

    Consultation area.

    A small table and chairs inside a consultation room near a hallway at the Rare Disease Institute.

    A small table and chairs inside a consultation room near a hallway at the Rare Disease Institute.

    A kitchen area at the Rare Disease Institute.

    A kitchen area at the Rare Disease Institute.

    A kitchen area at the Rare Disease Institute.

    Kitchen counter.

    A staff office at the Rare Disease Institute.

    A staff office at the Rare Disease Institute.

    A staff office area at the Rare Disease Institute.

    Staff desks.

    A sitting area with table, chairs and a television.

    A sitting area with table, chairs and a television.

    A sitting area with table, chairs and a television next to the kitchen.

    A sitting area with table, chairs and a television next to the kitchen.

    A large conference room at the Rare Disease Institute.

    A large conference room in the Rare Disease Institute.

    The garage at the Research & Innovation Campus offers convenient parking for visitors to the Rare Disease Institute.

    The garage at the Research & Innovation Campus offers convenient parking for visitors to the Rare Disease Institute.

    A paved walkway area between the parking garage and main entrance.

    The parking garage is just a short walk from our main entrance.

    Rare Diseases Institute sign

    Our front entrance sign welcomes visitors to the Rare Disease Institute.

    Welcome desk at the Rare Disease Institute.

    Our welcome desk

    Featured Resources

    Rare Disease Research at the Research & Innovation Campus

    Research at the Rare Disease Institute, now located at the Research & Innovation Campus, helps families like the Monacos live healthier lives.