The University of Pittsburgh is uniquely suited to further research into genetic disorders that affect those who are part of the Amish, Mennonite, or other Plain Communities due to its proximity to several of these communities in western and norther Pennsylvania, New York, and eastern Ohio. Due to the tight-knit nature of these communities, they can be disproportionately affected by certain genetic disorders, such as autosomal recessive disorders due to founder mutations and even mitochondrial disorders.
There are a number of autosomal recessive disorders that are known to occur in the Plain communities, but some estimates suggest that up to 50% of patients in the Plain Communities who have chronic disorders remain undiagnosed. Work being done focuses on these rare, undiagnosed disorders, while the mitochondrial disorders studied have significant impact on morbidity and mortality since they can impact many different parts of the body and symptoms may include diabetes, hearing loss, metabolic stroke, heart disease, muscle weakness, constipation, kidney failure or liver failure.
Through education and outreach, we work with members of the Plain Community to better understand how these communities are uniquely affected by genetic disorders, provide for pre-symptomatic and early symptomatic diagnosis leading to early and prompt treatment, and investigate inheritance patterns so that we can develop more effective monitoring and medical management for this population.