NIH launches massive hunt to solve medical mysteries for thousands

NCT ID NCT02450851

Recruiting now Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jul 29, 2026 · Updated 3 times

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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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.

GENETIC DISEASE

Contacts and locations

Locations

Baylor College of Medicine
RECRUITING

Houston, Texas, 77030, United States
Boston Children s Hospital
RECRUITING

Boston, Massachusetts, 02115, United States
Brigham and Women's Hospital
RECRUITING

Boston, Massachusetts, 02115, United States
Children's Hospital of Philadelphia
RECRUITING

Philadelphia, Pennsylvania, 19104, United States
Childrens National Medical Center
RECRUITING

Washington D.C., District of Columbia, 20010, United States
Duke University Health System
RECRUITING

Durham, North Carolina, 27710, United States
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
HudsonAlpha Institute for Biotechnology, Inc.
COMPLETED

Huntsville, Alabama, 35806, United States
Indiana University
RECRUITING

Indianapolis, Indiana, 46202-5262, United States
Leland Stanford Junior University
RECRUITING

Stanford, California, 94305, United States
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
Massachusetts General Hospital
RECRUITING

Boston, Massachusetts, 02114, United States
Mayo Clinic
RECRUITING

Rochester, Minnesota, 55905, United States
Medical College of Wisconsin
RECRUITING

Milwaukee, Wisconsin, 53226, United States
National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States
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
Stanford Hospital and Clinics
RECRUITING

Stanford, California, 94305, United States
Stanford University
RECRUITING

Stanford, California, 94305-5584, United States
University of Alabama at Birmingham
RECRUITING

Birmingham, Alabama, 35233, United States
University of California, Irvine Medical Center
RECRUITING

Orange, California, 92668, United States
University of California, Los Angeles
RECRUITING

Los Angeles, California, 90095, United States
University of Miami Miller School of Medicine
RECRUITING

Miami, Florida, 33136, United States
University of Oregon
NOT_YET_RECRUITING

Eugene, Oregon, 97403, United States
University of Pennsylvania
RECRUITING

Philadelphia, Pennsylvania, 19104-6056, United States
University of Utah
RECRUITING

Salt Lake City, Utah, 84112, United States
University of Washington
RECRUITING

Seattle, Washington, 98195, United States
Vanderbilt University Medical Center
RECRUITING

Nashville, Tennessee, 37232, United States
Washington University in St. Louis
RECRUITING

St Louis, Missouri, 63110, United States

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