Amish/Mennonite Research Contact Registry

The Amish and Mennonite communities of western Pennsylvania are unique because they are
isolated both geographically and socially. These groups originally migrated as a small group
from Europe. Since this first settlement there have been additional migration events within
North America that have resulted in many distinct communities. These events lead to genetic
founder effects, genetic bottleneck effects and virtually zero genetic inflow. The result has
been an increased burden of genetic disease on these vulnerable communities. Specific founder
genes explain the prevalence of different genetic conditions within each community and family
group. This means that families and communities will have a clustering of certain genetic
conditions, while the prevalence among the Plain people as a whole remains low. Understanding
the specific needs of each family and community group is important in order to deliver
comprehensive and specialized care. This requires research studies and needs assessments
within these communities. Currently this need is being addressed in eastern Pennsylvania by
the Clinic for Special Children in Strasburg. This organization has conducted research to
improve access and quality of care for these Plain Communities. There is an apparent need for
a similar understanding and relationship with the Plain Communities of western Pennsylvania.

Currently, a barrier exists for identifying and ascertaining appropriate individuals within
the Plain Community for new research studies. This is largely due to their social and
geographical isolation related to religious and cultural practices. Improving research and
understanding within Plain Communities has the potential to improve early diagnosis,
interventions, and clinical outcomes. Creating an ongoing registry will moderate these
barriers and provide a platform for contacting willing members of the Plain Community for
participation in future research projects that may positively impact their medical care, as
well as the general care in their communities.

This is not a study but a registry. Potential participants will be educated about the intent
of the registry, and written informed consent will be obtained to allow for collection and
storage of information in the registry for an indefinite period of time. At the time of
consent, potential participants will be informed about what it means to be a part of the
registry and the potential for contact and recruitment to future research studies.

One-on-one interviews with a clinician, or with primary and co-investigators, will be
conducted. This interview may take place in a clinic setting or the participants home or
regional environment. The primary goal of the interview will be to collect a detailed family
and medical history of each participant. This will be used to build a detailed pedigree of
members of this community. Medical information obtained through released medical records will
be included in the registry. Basic demographic and contact information will also be included
in the registry.

Subjects information will be stored in the host PhenoTips database and data will be regularly
undated and reviewed. Participants may be contacted for future research studies.

Inclusion Criteria:

- Amish and Mennonite men and women age 18 or older

- Amish and Mennonite children with the permission of a parent

Exclusion Criteria:

- Amish and Mennonite men and woman age 18 or older who do not speak English

- Those who are not Amish or Mennonite