Genetic sleuths hunt for hidden causes of rare diseases
NCT ID NCT01087320
First seen Oct 31, 2025 · Last updated May 20, 2026 · Updated 27 times
Summary
This study aims to discover the genetic causes of rare inherited diseases that have been difficult to diagnose with standard methods. Researchers will use advanced genome sequencing to analyze DNA from up to 2000 affected individuals and their family members. The goal is to improve understanding, diagnosis, and future treatment of these conditions.
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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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Contacts and locations
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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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