Researchers Identify Ultra-Rare Genetic Disorder in Amish Communities

A collaborative study by the Clinic for Special Children in Lancaster and the Children’s Hospital of Philadelphia has identified an ultra-rare genetic disorder called complement factor I (CFI) deficiency, which is significantly more prevalent in individuals of Old Order Amish ancestry.

“CFI deficiency… is a protein in our bodies that is a really critical component of our immune system called the complement system,” explained Dr. Laura Poskitt, Medical Director of the Clinic for Special Children. “The complement system plays a really important role in our early immune response… When you don’t have CFI, you can get over-activation and inflammation in the immune system. This can cause brain injury, spinal cord inflammation, and can be really disabling.”