Congenital disorders

The North American Amish communities are descended from a small group of immigrants who fled religious persecution in 17th Europe and are now widely distributed across the USA. Over subsequent generations, large family size led to rapid population expansion and a modern-day community numbering many tens of thousands of individuals. This ancestral ‘bottle neck’ has led to a number of inherited conditions that are rare in other populations becoming more common in the Anabaptist community.

The lack of awareness locally for these conditions has led to many families being subjected to expensive, uncomfortable and unnecessary clinical investigations in their search for diagnosis. The Amish make decisions about their health based on their religious beliefs. Similarly, they avoid certain modern technologies including computers and electricity, in order to remain separate. Taken together these factors make the process of disseminating important knowledge obtained through research to the community particularly challenging and all the more necessary.

Having recently identified the genes responsible for three inherited neurodevelopmental disorders in the Amish community – all new to medical science – this project will disseminate the clinically relevant research findings to affected families, clinicians and education providers through a website.