Rare Disease Institute (Genetics/Metabolism)
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.
Choosing Children’s National for 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
- Skeletal dysplasias
- Family counseling
- Genetic risk counseling
- Cardiac genetics
- Genetic syndromes
- Genetic diseases in adults
- Craniofacial anomalies
- DiGeorge syndrome
Evaluation and Treatment of Genetic and Metabolic Disorders
We provide the following care for genetic and metabolic disorders:
- Diagnosis and treatment of children and adults with congenital anomalies and genetic disorders
- State-of-the-art telemedicine consultation program with day care centers and regional doctors
- Continuity of treatment through multidisciplinary clinics, including neurofibromatosis, skeletal dysplasias, Down syndrome and congenital metabolopathies
- Prenatal services for high-risk pregnancies with coordinated treatment of the newborn, together with the Division of Fetal and Transitional Medicine
- Comprehensive care for children with lysosomal storage disorders, including enzyme replacement, pharmacological chaperone and substrate reduction therapies
- Emergency consultations and 24-hour telemedicine services in area hospitals for newborns with congenital anomalies or suspicion of metabolic or genetic disorders
- Emergency consultations and definitive tests for newborns with abnormal newborn screening (phenylketonuria test)
Genetic Counseling Centered on the Family
We’re committed to delivering support to your entire family. Our genetic counselors will guide you through available testing options, help you find the right genetic specialist at Children's National and provide you with family planning information. We also offer genetic counseling for individuals and families with a history – or suspicion – of a genetic disorder.