Scientists hunt for missing genetic clues in mysterious inherited diseases

NCT ID NCT04399694

First seen Nov 01, 2025 · Last updated Jun 01, 2026 · Updated 33 times

Summary

This study looked for new genetic changes in people with inherited diseases whose standard genetic tests were not clear. Researchers examined DNA from 56 participants, including patients and their unaffected family members. The goal was to find hidden variants that might explain their conditions, which could lead to better diagnosis in the future.

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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.