Massive gene hunt aims to solve thousands of rare medical mysteries
NCT ID NCT02743845
First seen Apr 05, 2026 · Last updated May 15, 2026 · Updated 5 times
Summary
This study enrolls 10,000 people with rare or undiagnosed genetic conditions, along with their family members, to collect DNA samples and medical information. Researchers use advanced genetic sequencing to find the genes causing these illnesses. The goal is to improve diagnosis and pave the way for future treatments, but this study does not offer 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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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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Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
Explore the condition pages connected to this study.