Every day scientists are looking for methods to combat various diseases. But unfortunately, a new disease is also sometimes found. And, as reported by the editorial Board Еurekalert, recently a group of scientists from the Australian national University (ANU) have found a new genetic disease. Moreover, according to the researchers, many of the patients for about 20 years of living with him and still have not accurately diagnosed.
After study is a group of scientists led by Professor Matthew Cooke and, according to scientists, on their finding they have lasted 5 years.
“We have discovered a new syndrome which explains the genetic cause and mechanism of development of a new disease. This disease is characterized by immunodeficiency, in which patients have recurrent infections, especially infections of the chest, including recurrent pneumonia. In addition, these patients also suffer from inflammatory diseases of the skin, lymph nodes and spleen.”
During their research, the scientists completely sequenced the genome of patients with unusual pathologies, and to study their immune system. It turned out that in this case there is on the one hand the weakness of the immune system, and on the other the inadequacy of its response to infection. Moreover, regardless of Australian experts their Japanese counterparts revealed the same regularities in the development of pathological processes. The Japanese patients were similar to the clinical picture and found that they have the same genetic variant violations.
“Treatment of rare diseases is very important for two reasons. First, genetic diagnosis gives a chance to patients who previously have passed a lot of tests and still don’t know what happens to them to answer. And second, these rare diseases can provide important information about how the body functions, as well as data on the development of new therapies and diagnostics.”
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