Using Exome & Genome Sequencing to Identify Genetic Disorders
The Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh is conducting a research study to identify genetic disorders in the Amish and Mennonite (Plain) communities using cutting-edge DNA sequencing technologies.
Study Goals
- Use whole exome sequencing (WES) to diagnose genetic disorders in Plain community members with an unknown condition
- Use whole genome sequencing (WGS) to identify genetic risks & differences between Plain communities
Who Can Participate?
- Any individual of Amish or Mennonite background, ages 0-100 years
- Families with a suspected genetic disorder
- Individuals interested in learning carrier status for known disorders in the Plain community
What’s involved
- Providing a DNA sample via blood draw, saliva or cheek swab
- Access to medical records
- 1-2 visits for consent, sample collection & return of results
- No cost to participants
All personal information is kept strictly confidential. Genetic counseling is provided to all participants to explain test results.
Interested in Learning More?
Contact the study team to discuss enrollment or receive more details:
Lina Ghaloul Gonzalez, MD
Principal Investigator
Division of Medical Genetics
UPMC Children’s Hospital of Pittsburgh
412-692-5662
lina.ghaloul@chp.edu
This research is funded by the National Institutes of Health and has been approved by the University of Pittsburgh Institutional Review Board.