Cure My Disease

Don't miss your cure!

 Log in / Sign up

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 Jun 27, 2026

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.

Disclaimer Read more

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for INTELLECTUAL DISABILITIES are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

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

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States