Scientists build DNA library to unlock mysteries of rare genetic disorders

NCT ID NCT02706639

Summary

This study is creating a collection of DNA, tissue samples, and health information from people with Williams syndrome or supravalvar aortic stenosis (SVAS) and their family members. Researchers want to understand why these genetic conditions affect people so differently, even when they have the same genetic changes. The study involves filling out questionnaires and providing samples like blood or saliva, but does not offer any treatment.

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Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

  • Nationwide Children's Hospital

    COMPLETED

    Columbus, Ohio, 43205, United States

  • Washington University School of Medicine

    COMPLETED

    St Louis, Missouri, 63110-1010, United States

Conditions

Explore the condition pages connected to this study.