“We’ve discovered a new syndrome, the genetic cause and the mechanism that explains how the genetic variation causes the disease. It is a disease which is characterized by immune deficiency where patients get recurrent infections, especially chest infections, including recurrent pneumonia, but paradoxically patients also suffer inflammatory diseases of the skin.” said Professor Cook from The ANU.
Over the past five years, a dedicated team of researchers has been gene-hunting to find insights into rare diseases at the ANU. “Understanding how genetic changes cause disease, is a big challenge. We study rare diseases of the immune system. The methods employed in this study can be applied to resolve otherwise unexplained diseases.” Professor Cook noted. The research team identified the condition by whole genome sequencing patients and then characterizing the patients’ immune systems. Meanwhile research colleagues in Japan identified the same disease in a second family with the same genetic variant.
“The Japanese patients had similar clinical problems and it turned out they had exactly the same genetic variant. To be sure we were dealing with the correct gene, we went on to introduce exactly the same genetic change in a mouse model using gene editing. This combined approach provides a powerful method for resolving potentially important genetic variants.” Professor Cook emphasized.
He continued, “Solving rare diseases is very important for two reasons. First, a genetic diagnosis provides certainty to patients who may have previously undergone many tests over many years, often without obtaining an answer. Second, rare diseases can provide important information about how the body works that can be useful for developing new tests and treatments for other diseases. “OCTOBER 18, 2018 By Australian National University