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Rare Disease Institute - Genetics and Metabolism

Contact number | 202-545-2500
Baby Mila wrapped as a present.

Helping Families with the Specialized Care They Need

Our team has helped countless families who require 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
Donate to support Rare Disease Institute and other lifesaving efforts

(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 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.

Conditions We Care For

Services We Provide

Honored to be a NORD Center of Excellence

National Organization for Rare Disorders logoChildren'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  

Learn more about NORD and search for rare diseases in its database.

Jordan's Story

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

  • Marshall Summar

    Marshall Summar
    Division Chief, Genetics and Metabolism
    Director, Rare Disease Institute

  • Debra Regier

    Debra Regier
    Medical Director, Rare Disease Institute
    Medical Geneticist

  • Nicholas Ah Mew

    Nicholas Ah Mew
    Director, Inherited Metabolic Disorders Program
    Clinical Geneticist
    Clinical Biochemical Geneticist

  • Seth Berger

    Seth Berger
    Medical Geneticist

  • Kim Chapman

    Kimberly Chapman
    Medical Geneticist

  • J Fraser

    Jamie Fraser
    Director, Myelin Disorders Program
    Director, Fetal Genetics Program
    Medical and Biochemical Geneticist

  • Christina Grant

    Christina Grant
    Co-Director, Lysosomal Storage and Treatment Program
    Medical Geneticist

  • Eyby Leon Janampa

    Eyby Leon Janampa
    Medical Geneticist

  • Amy Lewanda

    Amy Lewanda
    Medical Geneticist

  • Kenneth Rosenbaun

    Kenneth Rosenbaum
    Medical Geneticist

  • Tamanna Roshan Lal

    Tamanna Roshan Lal
    Co-Director, Lysosomal Storage and Treatment Program
    Medical Geneticist

  • Natasha Shur

    Natasha Shur
    Medical Geneticist

  • Pranroot Tanpaiboon

    Pranoot Tanpaiboon
    Medical Geneticist

  • Hallie Andrew, MS

    Hallie Andrew
    Genetic Counselor

  • Children's National Hospital

    Heather Hain
    Genetic Counselor

  • Children's National Hospital

    Christine Maccia
    Genetic Counselor

  • Children's National Hospital

    Ilana Miller
    Genetic Counselor

  • Haley Nisson

    Haley Nisson
    Genetic Counselor

  • Children's National Hospital

    Gabrielle Pomorski
    Genetic Counselor

  • Hillary Porter

    Hillary Porter
    Genetic Counselor

  • Rhonda Schonberg

    Rhonda Schonberg
    Genetic Counselor

  • Kara Simpson

    Kara Simpson
    Genetic Counselor

  • Joyce Turner

    Joyce Turner
    Director, Cancer Genetic Counseling Program
    Genetic Counselor

  • Children's National Hospital

    Julia Weston
    Genetic Counselor

  • Erin MacLeod

    Erin MacLeod
    Director, Metabolic Nutrition

  • Danielle Starin

    Danielle Starin
    Metabolic Dietitian

  • Children's National Hospital

    Keriann Kuperman
    Physician Assistant

  • Children's National Hospital

    Jessica Albert
    Director, Molecular Diagnostics & Biochemical Genetics Laboratories

  • Children's National Hospital

    Drew Michael
    Geneticist

  • Children's National Hospital

    Kiadra Blanton
    Patient Care Technician

  • Allison Shaw

    Allison Shaw
    Nurse Practitioner

  • Children's National Hospital

    Emily Able
    Operations Lead

  • Children's National Hospital

    Sonja Duncan
    Clinical Research Coordinator

  • Children's National Hospital

    Adedokun Jagun
    Institute Grants and Finance Administrator

  • Children's National Hospital

    Kelly McNulty
    Program Coordinator - Metabolic

  • Children's National Hospital

    Tiffany Swaringer
    Operations Associate - Education

  • Children's National Hospital

    Spencer Vause
    Program Associate

  • Children's National Hospital

    Melissa Vivas
    Administrative Assistant