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Hunt for hidden genes behind rare diseases

NCT ID NCT03287193

First seen Dec 12, 2025 · Last updated May 23, 2026 · Updated 23 times

Summary

This study aims to find new genes or genetic changes that cause rare diseases. Researchers will study up to 850 people, including patients with suspected genetic rare diseases, fetuses with developmental issues, and healthy relatives. By using advanced DNA sequencing, they hope to give more families a genetic diagnosis and better counseling.

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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

Locations

  • Chu Dijon Bourogne

    RECRUITING

    Dijon, 21000, France

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

Conditions

Explore the condition pages connected to this study.