Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

Description

This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.

Conditions

Undiagnosed Disease

Study Overview

Study Details

Study overview

This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.

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

Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community

Condition
Undiagnosed Disease
Intervention / Treatment

-

Contacts and Locations

Pittsburgh

Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, United States, 15224

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Any person of Amish or Mennonite descent
  • * Individuals who are not of Amish or Mennonite descent

Ages Eligible for Study

to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

University of Pittsburgh,

Lina Ghaloul Gonzalez, MD, PRINCIPAL_INVESTIGATOR, University of Pittsburgh

Study Record Dates

2030-08