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.
Any person of Amish or Mennonite descent
Individuals who are not of Amish or Mennonite descent
Families of Amish/Mennonite background which include at least one individual with a clinical phenotype and a pedigree suggestive of genetic disease will be considered for the undiagnosed disease portion of the study. Initial outreach will be to Plain Communities in western Pennsylvania, but all Pain Community members are eligible as long as they have been evaluated by a local clinical geneticist. Any individual (and their family members) from the Plain Community is eligible for the population based studies of founder effects and genetic drift.
Cohort
Prospective
Not listed
Exome and genome sequencing results for clinical diagnosis in participants.
Each participant will be sequenced and DNA data will be analyzed for gene mutations consistent with the clinical symptomatology
Exome and genome sequence results for population genetic studies
Exome and genome sequencing will be used to evaluate genetic changes in specific communities within the Amish and Mennonite communities. These changes/differences will be compared among the groups to show how population migration and new genetic mutations effect the burden of genetic disease in these populations.
Click on the lead sponsor to view all of their trials.
University of Pittsburgh
Lead sponsor
Horizon Pharma USA, Inc.
Collaborator
