Scientists hunt for hidden genetic clues in rare diseases

NCT ID NCT04399694

Summary

This study aimed to discover new genetic changes that cause inherited disorders, especially in patients where standard genetic testing was inconclusive. Researchers analyzed DNA and RNA from blood samples of 56 participants, including patients and their family members. The goal was to improve understanding of how these diseases develop, not to test a new 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.