Disease detectives: a new frontier in genetic mutations

Image: National Cancer Institute/Unsplash In hospitals around the globe lay seven patients from six unrelated families. Separated by thousands of kilometres across 4 different continents, the patients were divided by language, culture, age and sex. However, they shared a rare similarity. They were united by a new and incredibly rare genetic mutation, one that might just change how we think about immune deficiencies. This is an example of where detective work meets science. The powers of observation and deduction have been instrumental in exposing this mystery. Move aside Sherlock Holmes - Associate Professor Anselm Enders from The Australian National University (ANU) alongside an international team of researchers, has uncovered a new genetic mutation.