Unlocking genetic secrets: study aims to diagnose rare diseases in plain communities

NCT ID NCT02927158

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study uses advanced genetic testing (whole exome and whole genome sequencing) to find the genetic causes of undiagnosed diseases in people of Amish or Mennonite descent. Researchers will analyze DNA from 300 participants to identify disease-causing gene mutations and study how certain genetic changes spread within these communities. The goal is to improve diagnosis and understanding of inherited disorders in this unique population.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • Children's Hospital of Pittsburgh of UPMC

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

    Contact

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

    Contact

    Contact

    Contact

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

    Contact

    Contact

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    Contact