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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for UNDIAGNOSED DISEASE are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

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

Locations

  • Children's Hospital of Pittsburgh of UPMC

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.