International Christianson Syndrome Network

We have developed an international registry for the disorder termed Christianson syndrome, caused by genetic mutations in the gene NHE6 on the X-chromosome in boys. At present, we have enrolled approximately 40 families internationally which now extends across 14 countries and is the largest cohort of families with this condition. Through this work we have developed stem cells as an experimental platform in the laboratory to screen candidate therapeutics. The first candidate therapeutic screen on the stem cells of affecting children is nearly at the completion stage. 

Accordion Location