Scientists hunt for hidden genes behind rare disorders

NCT ID NCT01087320

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

First seen Jun 27, 2026 · Last updated Aug 11, 2026 · Updated 3 times

Summary

This study aims to identify the genetic causes of rare, undiagnosed disorders by using genome sequencing. Researchers will analyze the DNA of up to 2,000 participants, including affected individuals and their family members. The goal is to discover new disease-causing genes and improve diagnosis for these conditions.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this research could identify the genetic causes of many rare diseases, leading to better diagnosis and potential future treatments.
What could go wrong: This is an observational study, not a treatment trial. It may not directly benefit participants, and finding genetic causes can be complex and uncertain.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities hereditary disease intellectual disability

As listed by the trial registrant

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

CONGENITAL ANOMALY INTELLECTUAL DISABILITIES RARE DISORDERS

Contacts and locations

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

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