Skip to main content Skip to navigation
We care about your privacy. Read about your rights and how we protect your data. Get Details

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

(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. 

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.

Ryan A's Story

Ryan Alam, a teen fighting a rare neurodegenerative disease, tandem skydives with SFC Chris Acevedo of the U.S. Army Parachute Team. Photo courtesy U.S. Army Parachute Team, the Golden Knights.

Ryan has neurodegeneration with brain iron accumulation, or NBIA. Of the different types of NBIA, he has mitochondrial-membrane protein-associated neurodegeneration, or MPAN, a disease in which a surplus of iron accumulates in the brain and causes it to deteriorate. Tuba Alam, Ryan’s mom, says that despite his condition, his goal in life is to help others like him find a cure so that they can live a full life.

Ryan A's Story

Rare Disease Institute Team

  • Marshall Summar

    Marshall Summar
    Director, Rare Disease Institute Laboratory

  • Debra Regier

    Debra Regier
    Interim Division Chief, Genetics and Metabolism
    Program Director, Medical Genetics Residency Program

  • 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

  • Louise Pyle

    Louise Pyle
    Medical Geneticist

  • Kenneth Rosenbaun

    Kenneth Rosenbaum
    Medical Geneticist

  • Natasha Shur

    Natasha Shur
    Medical Geneticist

  • Heather Hain

    Heather Hain
    Genetic Counselor

  • Children's National Hospital

    Christine Maccia
    Genetic Counselor

  • Ilana Miller

    Ilana Miller
    Genetic Counselor

  • Gabrielle Pomorski

    Gabrielle Pomorski
    Genetic Counselor

  • Rhonda Schonberg

    Rhonda L. Schonberg
    Genetic Counselor

  • Kara Simpson

    Kara Simpson
    Genetic Counselor

  • Joyce Turner

    Joyce Turner
    Director, Cancer Genetic Counseling Program
    Genetic Counselor

  • Julia Weston

    Julia Weston
    Genetic Counselor

  • Erin MacLeod

    Erin MacLeod
    Director, Metabolic Nutrition

  • Nina Mickle

    Nina Mickle
    Metabolic Dietitian

  • Danielle Starin

    Danielle Starin
    Metabolic Dietitian

  • Children's National Hospital

    Keriann Kuperman
    Physician Assistant

  • Jessica Albert

    Jessica Albert
    Director, Molecular Diagnostics & Biochemical Genetics Laboratories

  • Children's National Hospital

    Drew Michael

  • Allison Shaw

    Allison Shaw
    Director, Newborn Metabolic Screening Program
    Nurse Practitioner

  • Emily Able

    Emily Able
    Operations Lead

  • Kiadra Blanton

    Kiadra Blanton
    Genetic Counselor Assistant

  • Kelly McNulty

    Kelly McNulty
    Program Coordinator - Metabolic

  • Tiffany Swaringer

    Tiffany Swaringer
    Operations Associate - Education

  • Children's National Hospital

    Spencer Vause
    Program Associate

  • Anielka Zuniga Cruz

    Anielka Zuniga Cruz
    Administrative Assistant