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.
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
Rare Disease Institute Information: 202-545-2500
Inherited Metabolic Disorders Information: 202-545-2531
Newborn Screening: 202-545-2498
See Our New Space at the Research & Innovation Campus
A view of the Rare Disease Institute at the Children's National Research & Innovation Campus at sunset.
A patient room.
Blue patient room.
Patient room with bed.
An area where providers can check a patient's vital measurements.
A consultation area at the Rare Disease Institute.
A consultation area with a couch and chair 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 staff office at the Rare Disease Institute.
A sitting area with table, chairs and a television.
A sitting area with table, chairs and a television next to the kitchen.
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 parking garage is just a short walk from our main entrance.
Our front entrance sign welcomes visitors to the Rare Disease Institute.
Our welcome desk
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.