WINNIPEG — Researchers in Canada and Germany believe they’ve found the key to unlocking a cure to a fatal, incurable genetic condition that almost exclusively affects Hutterites.
Bowen-Conradi Syndrome hinders the growth and development of children and can be characterized by low birth weight, a small head, and a failure to gain weight and thrive, among other things.
Researchers from the University of Manitoba and Germany recently discovered children affected by the disease share a deficiency of a protein created by the EMG1 gene, which the scientists believe affects growth and causes the condition.
The research team has since developed a test to diagnose the problem.
Their findings have been published in the online American Journal of Human Genetics and will be in the journal’s print edition next month.
“After so many years, it’s very gratifying,” said project leader Barbara Triggs-Raine, who has been working on this since 2001.
The next step is developing animal models and testing therapies on them so humans could eventually be treated for the condition, but Triggs-Raine said that is a long way down the road.
“It’s a very important first step,” said Karl Kleinsasser, a resident of Manitoba’s Crystal Spring colony whose son Adam died of the condition in 2006 at the age of six months.