Runny nose, cough, middle ear infections – what sounds like a cold can in rare cases be a sign of primary ciliary dyskinesia, a dangerous genetic disease. Early detection is the be-all and end-all for treatment. Paediatrician Professor Dr Heymut Omran and his team have researched how this can be achieved.
The Disease
Almost all of our cells are covered with cilia. They can be mobile or immobile and fulfil a wide variety of tasks in the body. In the airways, mobile cilia are responsible for the removal of mucus, bacteria and cell waste. In people with primary ciliary dyskinesia (PCD), the movements of the cilia are impaired – self-cleaning does not work or does not work well enough. One in 10,000 newborns is born with PCD. Immediately after birth, babies often suffer from laboured breathing, nasal congestion and coughing. However, PCD is not always diagnosed so early. Many people only find out about their disease in adulthood – sometimes only after severe lung infections and destruction of the lung tissue have already occurred.
The Research
There is no cure for primary ciliary dyskinesia. However, if it is recognised and treated early – for example through respiratory physiotherapy, inhalation or the prophylactic administration of antibiotics – the severity of the respiratory symptoms can be significantly reduced. Patients can then usually lead an almost normal life. Paediatrician Professor Dr Heymut Omran from the Department of Paediatrics and Adolescent Medicine at Münster University Hospital has identified around 40 new genetic defects that lead to PCD with the help of genetic and protein tests. ‘We can now describe various clinical pictures of PCD that were previously unknown to many,’ explains Omran. ‘We have understood how the disease can progress, can make early diagnoses and optimise therapies.’ In 2015, the paediatrician received the Eva Luise Köhler Research Award for Rare Diseases for his work.
The Success
Thanks to the findings of Professor Dr Heymut Omran and his team, hundreds of patients have been diagnosed – this has also opened up the opportunity to conduct large, randomised studies in order to continue working on the best possible therapeutic approaches. In order to gain an even better understanding of the often different courses of the genetic defects, the data of those affected is now being collected in a European register. It is headed by Professor Dr Heymut Omran. He is also the coordinator of a European reference network of hospitals specialising in PCD in order to ensure a rapid and uncomplicated exchange of information.
