Genetic analysis of undiagnosed diseases in Plain Communities

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to use whole exome and genome sequencing to uncover genetic causes of undiagnosed disorders within the Old Order Amish and Mennonite populations. By identifying genetic defects in individuals with clinical features suggestive of Mendelian disorders, the research seeks to establish a Translational Medicine Program that enhances diagnostic strategies and reduces costs for these communities. The study will also explore population genetics to understand genetic drift and founder mutations, ultimately improving clinical interventions and health outcomes for participants.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Any person of Amish or Mennonite descent

Exclusion Criteria:

* Individuals who are not of Amish or Mennonite descent

Where it's running

• Children's Hospital of Pittsburgh of UPMC
  Pittsburgh, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Lina Ghaloul Gonzalez, MD — University of Pittsburgh
• Study coordinator: Cate Walsh Vockley, MS, LCGC
• Email: catherine.walshvockley@chp.edu
• Phone: 412-692-7349

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.