Scientists hunt for hidden genes behind rare diseases
NCT ID NCT03287193
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study aims to find new genes or genetic changes that cause rare diseases. Researchers will study 850 people, including patients with suspected genetic rare diseases, fetuses with developmental problems, and healthy relatives. By using advanced DNA sequencing, they hope to give families a genetic diagnosis and better counseling.
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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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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Chu Dijon Bourogne
RECRUITINGDijon, 21000, France
Contact Phone: •••-•••-•••• Email: •••••@•••••