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.
We have received national recognition for our efforts, as we were the first entity to be named a Center of Excellence by the National Organization for Rare Disorders.
Our division coordinates 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 at Children’s National 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 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. Virtual care, or telemedicine, decreases wait times and allows simple issues to be addressed quickly. Among the benefits of virtual visits are:
- Increased frequency of visits for high-risk patients
- Patients with autism can be seen in their home setting
- Dietitians can view inside the home refrigerator
- Multiple providers at various locations can share screens and coordinate virtual visits
- Can be combined with in-person visits when deemed appropriate
- Saves clinic slots for patients that need to be seen in person
In addition, virtual visits remove barriers to care, such as:
- Child care for other children
- Fear of exposure to illness for at-risk patients in a hospital setting
- Missed work
To inquire about our virtual care program, email Monisha Kisling, CGC, one of our genetic counselors.
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 and Services We Provide
- 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)
Additional Services We Provide
- 24-hour emergency consultations and telemedicine 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 Fetal Medicine 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
Leaders in Diagnosing and Treating Rare Disease
Listen to Marshall Summar, M.D., speak about the importance of the CNRDI.
Our team of world-renowned medical experts, metabolic dietitians, nurse practitioners and genetic counselors offer care for your child’s physical needs, while our social workers, child life specialists and chaplaincy services staff offer support for your child and your family’s emotional, spiritual and mental health needs.
Our Inherited Metabolic Disorders Program is one of the largest in the country with more than 600 active patients. These disorders are rare among the general population and may be misdiagnosed, as symptoms are often similar to other conditions. Our 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. If your child is diagnosed with one of these disorders, the program offers a comprehensive specialized team that coordinates all aspects of your child’s care, including the services of metabolic dietitians for patients who must follow a special metabolic diet.
Children’s National is nationally and internationally acknowledged as a leader in treating metabolic diseases, 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.
View our BearGenes video series which provide up to date information about topics from the genetics clinic. (English) | (Español)
Genetic Counseling and Family Services
Our genetic counseling team is committed to providing compassionate support for patients and their families. We provide genetic counseling services for families with a known genetic disorder and recurrence risk counseling for parents of a child with an inherited condition.
Our genetic counselors provide information on family planning options, explain the testing options available to you and help coordinate referrals for related specialists at Children’s National. We see patients through self-referral or with referral from a primary care physician or another subspecialty clinic within Children’s National.
We also provide in-depth counseling for carrier screening results.
Children’s National also provides educational outreach to community physicians, schools and families through lectures, seminars and parent support groups.
Genetic testing is not currently covered by all health care plans. As our team works with your family, we will discuss testing options and attempt to optimize your testing plan in line with your insurance guidelines. Contacting your insurance before your visit to determine their testing guidelines has been helpful for some families to direct our conversations.
You will be seen by both a geneticist and a genetic counselor, both of whom will submit a bill to your insurance provider. If you have health insurance that requires a referral and/or authorization for geneticist or genetic counseling services, please bring your referral to your appointment. If you are unsure if you need a referral, please contact your primary care physician or health insurance provider.
Rare Disease Institute Team