NIH launches massive hunt to solve medical mysteries for thousands

NCT ID NCT02450851

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to diagnose people with severe, undiagnosed conditions that have baffled doctors. Up to 20,000 participants will undergo advanced genetic testing and clinical exams at multiple research centers. The goal is to provide answers, discover new diseases, and improve care for those with rare disorders.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

hereditary disease Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Boston Children s Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Brigham and Women's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Childrens National Medical Center

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Duke University Health System

    RECRUITING

    Durham, North Carolina, 27710, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Harvard T.H. Chan School of Public Health

    COMPLETED

    Boston, Massachusetts, 02115, United States

  • Harvard U Faculty of Medicine

    NOT_YET_RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • HudsonAlpha Institute for Biotechnology, Inc.

    COMPLETED

    Huntsville, Alabama, 35806, United States

  • Indiana University

    RECRUITING

    Indianapolis, Indiana, 46202-5262, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Leland Stanford Junior University

    RECRUITING

    Stanford, California, 94305, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Lucile Salter Packard Children's Hospital at Stanford

    COMPLETED

    Stanford, California, 94020, United States

  • Lurie Children s Hospital

    NOT_YET_RECRUITING

    Chicago, Illinois, 60611, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02114, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Mayo Clinic

    RECRUITING

    Rochester, Minnesota, 55905, United States

    Contact Email: •••••@•••••

  • Medical College of Wisconsin

    RECRUITING

    Milwaukee, Wisconsin, 53226, United States

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • New York Genome Center

    ACTIVE_NOT_RECRUITING

    New York, New York, 10013, United States

  • Oregon Health Sciences University

    COMPLETED

    Portland, Oregon, 97201-3098, United States

  • Pacific Northwest National Laboratory

    COMPLETED

    Richland, Washington, 99354, United States

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98101, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Stanford Hospital and Clinics

    RECRUITING

    Stanford, California, 94305, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Stanford University

    RECRUITING

    Stanford, California, 94305-5584, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Alabama at Birmingham

    RECRUITING

    Birmingham, Alabama, 35233, United States

    Contact Email: •••••@•••••

  • University of California, Irvine Medical Center

    RECRUITING

    Orange, California, 92668, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of California, Los Angeles

    RECRUITING

    Los Angeles, California, 90095, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Miami Miller School of Medicine

    RECRUITING

    Miami, Florida, 33136, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Oregon

    NOT_YET_RECRUITING

    Eugene, Oregon, 97403, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104-6056, United States

    Contact Email: •••••@•••••

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84112, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Washington

    RECRUITING

    Seattle, Washington, 98195, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Vanderbilt University Medical Center

    RECRUITING

    Nashville, Tennessee, 37232, United States

    Contact Email: •••••@•••••

  • Washington University in St. Louis

    RECRUITING

    St Louis, Missouri, 63110, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••