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Rare Disease Institute - Genetics and Metabolism
Helping Families with the Specialized Care They Need
Our team has helped countless families in need of care for their children, like Stephen Monaco, who was diagnosed with isovaleric acidemia at age 3 1/2.
Read Stephen's story
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 aim to 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. Listen to our Director, Marshall Summar, M.D., speak about the importance of the CNRDI.
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.
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.
Your child's appointment may be available as a telehealth visit. Please call the Bear Line at 1-888-884-BEAR (2327) to schedule and learn more.
Our Rare Disease Institute offers a virtual genetics clinic, allowing patients to be evaluated from home. Along with in-person visits, this enables us to optimize and tailor care for every child and family. Telehealth decreases wait times and allows simple issues to be addressed quickly.
Nationally Recognized for Excellence in Care
As the National Organization for Rare Disease's first Center of Excellence, our Rare Disease Institute leads the field in finding better ways to care for patients and families.
Conditions We Care For
- 22q11 deletion syndrome
- Abnormal growth and development
- Adult genetic conditions
- Birth defects
- Cancer genetics
- Cardiac genetics
- Connective tissue disorders
- Craniofacial defects
- Deletion and duplication syndromes
- Down syndrome
- Family counseling for genetic syndromes
- Genetic risk counseling
- Genetic testing interpretation
- Hearing loss
- Skeletal dysplasias
- Undiagnosed genetic syndromes
- Abnormal newborn screening results
- Biotinidase deficiency
- Fatty acid oxidation disorders (MCAD, VLCAD, LCHAD)
- Lysosomal storage disorders, including enzyme replacement therapy patients
- Maple syrup urine disease
- Mitochondrial disorders
- Organic acidemias (propionic acidemia, methylmalonic acidemia or aciduria)
- PKU (phenylketonuria)
- Urea cycle disorders (OTC, CPS, citrullinemia, arginase deficiency, HHH)
Services We Provide
To make rare disease patient care easier for our patient families, our geneticists have leveraged their unique areas of expertise to establish various multidisciplinary clinics. These include:
- 24-hour emergency consultations and telehealth services at area hospitals for newborns with birth defects or suspected genetic or metabolic disorder
- Emergency consultation and diagnostic testing for newborns with abnormal state newborn screens in both Washington, D.C., and surrounding states
- Diagnosis and management of children and adults with birth defects and genetic disorders
- Genetic counseling and cancer screening for individuals and families with a suspected or confirmed diagnosis of a cancer predisposition syndrome, in conjunction with the Division of Oncology
- Continuity of care through multidisciplinary clinics, including neurofibromatosis, skeletal dysplasias, Down syndrome and inborn errors of metabolism
- Prenatal services for at-risk pregnancies with transition to coordinated management of the newborn, in conjunction with the Prenatal Pediatrics Institute
- Genetic counseling for individuals and families with a history or suspected history of a genetic disorder
- Carrier screening and genetic counseling for high-risk groups
- Diagnosis and management of children and adults with inborn errors of metabolism, including those requiring special metabolic diet
- Comprehensive care for individuals with lysosomal storage disorders, including enzyme replacement, pharmacologic chaperone, and substrate reduction therapies
Moving On Up
Children's National Rare Disease Institute will soon move its research and clinical space to the new Research & Innovation Campus now under construction. This will position us to be able to improve services for our families as we continue to advance the best possible treatments for children with rare diseases.
View our video series
Video Series Provides Highlights of Our Work
Be sure to watch our BearGenes videos (available in English and Spanish) to learn more about the innovative work happening at Children's National Hospital Rare Disease Institute.
Rare Disease Institute Team