Scientists hunt for hidden gene changes behind unusual cholesterol problems

NCT ID NCT02311335

First seen Nov 01, 2025 · Last updated May 14, 2026 · Updated 31 times

Summary

This study aimed to find new gene changes that cause rare lipid disorders, like unusual cholesterol or fat levels in the blood. Researchers used advanced genetic testing (genomic sequencing) on 140 people aged 2 and older, including affected individuals and their relatives. The goal was to discover genetic causes that older methods missed, which could help understand and potentially treat these conditions in the future.

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Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.