Genetic Disorder Identification in Amish and Mennonite Communities

Use of Whole Exome Sequencing/Whole Genome Sequencing in the Plain Communities

Protocol Description

The long-term goal of this program is to leverage the genetic information obtained to better understand the genetic forces and risks driving the health of Old Order Amish and Mennonite communities. This information may help clinicians achieve better and more prompt clinical intervention and improvement of outcomes when dealing with these populations and their unique health issues. Researchers hope to identify genetic causes of health issues specific to these communities, and to identify carriers of genes that could pass on a condition. Researchers will also compare results of different Amish and Mennonite communities and genetic findings in the European ancestry.

Eligibility Criteria

This study is recruiting people of both genders, who are of Amish or Mennonite descent and who have a medical condition that may have a genetic cause.
Males and Females: All ages

Requirements

For DNA sequencing, blood samples will be taken from participants and healthy sibilings and parents. Urine and/or saliva samples may also be taken for future functional studies. Researchers will review participants’ health and family medical history, as well as results from other physical exams, lab reports, and tests provided by medical facilities and physicians. In a follow up visit, participants will be informed of what was learned through DNA analysis about their medical condition or whether they are a carrier of an abnormal gene that could be inherited.
Visits: None beyond normal clinical care
Duration: Not applicable

Status: Enrolling by Invitation

Source(s) of Support

Medical Genetics Division, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC

Primary Investigator

Lina Ghaloul Gonzalez, MD

Contact Information

For more information about the study or enrollment, please contact:
Catherine M. Walsh Vockley, MS, LCGC
412-692-5070