Scientists hunt for hidden genes behind rare diseases
NCT ID NCT01087320
First seen Oct 31, 2025 · Last updated May 12, 2026 · Updated 26 times
Summary
This study aims to discover the genetic causes of rare inherited diseases that are difficult to diagnose with current methods. Researchers will use genome sequencing to analyze the DNA of up to 2,000 participants, including affected individuals and their family members. The goal is to improve diagnosis and understanding of these conditions, not to provide a direct treatment or cure.
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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.
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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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Conditions
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