Scientists hunt for missing genetic clues in mysterious diseases

NCT ID NCT04399694

First seen Nov 01, 2025 · Last updated Apr 28, 2026 · Updated 28 times

Summary

This study looked for new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but unclear genetic test results. Researchers studied 56 patients and their family members to find hidden DNA variants. The goal was to better understand the genetic roots of these conditions, not to test a treatment.

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Contacts and locations

Locations

  • Duke University

    Durham, North Carolina, 27710, United States

Conditions

Explore the condition pages connected to this study.