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Rare Disease Institute - Genetics and Metabolism

Contact number | 202-545-2500

Helping Families with the Specialized Care They Need

Our team has helped countless families in need of care for their children, like Mila Vasaio, who was diagnosed with Congenital central hypoventilation syndrome (CCHS) and Hirschsprung disease shortly after birth.

Read Mila's story

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(en español)

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 to this location (en español).

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.

Telehealth

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.

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.

View photo gallery

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.

Watch the video

Conditions We Care For

- 22q11 deletion syndrome
- Abnormal growth and development
- Adult genetic conditions
- Autism
- 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
- Neurofibromatosis
- Skeletal dysplasias
- Undiagnosed genetic syndromes
- Abnormal newborn screening results
- Biotinidase deficiency
- Fatty acid oxidation disorders (MCAD, VLCAD, LCHAD)
- Galactosemia
- 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

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.

View our video series

Kids Jordan and Jessica Shapiro sitting in a kid-friendly grocery cart.

Genetic conditions like Jordan’s, 16p11.2 duplication syndrome, can be difficult to identify and requires experts like those at the Rare Disease Institute to carefully analyze the patient’s symptoms and compare them to other documented cases.

Jordan's Story

Rare Disease Institute Team

Prev Next

Marshall Summar
Division Chief, Genetics and Metabolism
Director, Rare Disease Institute
Debra Regier
Medical Director, Rare Disease Institute
Medical Geneticist
Nicholas Ah Mew
Director, Inherited Metabolic Disorders Program
Clinical Geneticist
Clinical Biochemical Geneticist
Seth Berger
Medical Geneticist
Kimberly Chapman
Medical Geneticist
Jamie Fraser
Director, Myelin Disorders Program
Director, Fetal Genetics Program
Medical and Biochemical Geneticist
Christina Grant
Co-Director, Lysosomal Storage and Treatment Program
Medical Geneticist
Eyby Leon Janampa
Medical Geneticist
Amy Lewanda
Medical Geneticist
Kenneth Rosenbaum
Medical Geneticist
Tamanna Roshan Lal
Co-Director, Lysosomal Storage and Treatment Program
Medical Geneticist
Natasha Shur
Medical Geneticist
Pranoot Tanpaiboon
Medical Geneticist
Hallie Andrew
Genetic Counselor
Heather Hain
Genetic Counselor
Christine Maccia
Genetic Counselor
Ilana Miller
Genetic Counselor
Haley Nisson
Genetic Counselor
Gabrielle Pomorski
Genetic Counselor
Hillary Porter
Genetic Counselor
Rhonda Schonberg
Genetic Counselor
Kara Simpson
Genetic Counselor
Joyce Turner
Director, Cancer Genetic Counseling Program
Genetic Counselor
Julia Weston
Genetic Counselor
Erin MacLeod
Director, Metabolic Nutrition
Danielle Starin
Metabolic Dietitian
Keriann Kuperman
Physician Assistant
Jessica Albert
Geneticist
Drew Michael
Geneticist
Allison Shaw
Nurse Practitioner