According to a story from Science Daily, a group of scientists from the Australian National University have managed to discovery a new genetically linked disease and have also pioneered a new technique for identifying previously unidentified diseases and conditions. The researchers have succeeded in learning a great deal about this disease from the beginning, including information such as the disease mechanism and the genetic variant that causes it.
Professor Matthew Cook, who was a part of the research team, says that the new disease is characterized by symptoms including immune deficiency, inflammation affecting the skin, lymph nodes, and spleen, and infections such as recurrent pneumonia. Some of the patients that the scientists examined had been dealing with these symptoms for almost 20 years without ever understanding what was causing them to get sick. This disease is unusual because of its apparently contradictory symptoms. The immune system appears weakened because of the frequent chest infections, yet it is also capable of mounting an autoimmune response that causes inflammation in other parts of the body.
Breaking Things Down
The identification process involved assessing the immune systems of the patients and then whole genome sequencing. A major breakthrough was when the scientists encountered a second family from Japan that had the same genetic variants as the first as well as similar symptoms.
In order to back up their suspicions, the team also modified a mouse to express the same genetic variant that the patients did. The results of this mouse model helped confirm that the genetic variant that they identified was in fact playing a role in this mysterious disease.
While it is probably pretty scary to hear a doctor or scientist tell you that you have a brand new disease that no one has ever treated or heard of, it is still some sort of relief to have a better understanding of what disease you have, and the discovery should be encouraging news for other rare disease patients that are still waiting to get an accurate diagnosis.
The team hopes to use a similar process in the future to discover other new diseases.