... in testing of genetically caused lung diseases
Inhale. Exhale. As simple as it is natural, our lungs fill continuously with fresh air and expel the used air again. And that almost 20,000 times a day. Whether we are awake or asleep. A vital process that supplies our organism with oxygen. This is why functional disturbances of the lungs always have an effect on the entire body. In addition to environmental influences, infections and lifestyle, lung diseases can also be traced back to a hereditary predisposition. The best known example of a genetic disease that directly affects the lungs is cystic fibrosis. It is characterized by chronic cough, viscous mucus and high susceptibility to infections. About 20 years ago, life expectancy for this disease was low. Thanks to medical and technical advances, this rare disease can now be diagnosed earlier and treatment options are constantly being improved. This increases the chances of alleviating the disease and improving the prognosis. The first therapies have been approved for certain mutations. A genetic disease provides groundbreaking information that can be used to confirm a diagnosis at an early stage and identify the mutations that cause the disease. And: With knowledge of the underlying genetic change and the hereditary pattern, risk carriers within a family can be identified at an early stage. Patients and their relatives receive valuable information on the risk of recurrence if they wish to have children.