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Medical research enables new diagnostics and therapies / Patients benefit from this, both with common diseases and rare diseases

How can diseases be effectively prevented and treated in a targeted manner? World Health Day on April 7 draws attention to key topics such as prevention, research and innovative diagnostics. Experts from the University Medical Center Freiburg will demonstrate the contribution scientific findings make to the health of the population - both with regard to widespread and rare diseases.

"Medical research is essential for the therapies of tomorrow. It enables us not only to react in medical care, but also to look ahead and offer new solutions," said Prof. Dr. Anna Köttgen, head of the Institute of Genetic Epidemiology at the Freiburg University Medical Center and head of the Collaborative Research Centre for Nephrogenetics and the NAKO Health Study in Freiburg. In Germany, common diseases such as obesity are on the rise. "We need to counter these with effective prevention and evidence-based care," says Köttgen. Köttgen's research is based on large population studies such as the NAKO Health Study. These provide important insights into risk factors and disease progression. One focus is on the development of new diagnostic procedures - for example through the use of machine learning. "We now have a much better understanding of how diseases are caused by a combination of genetic predisposition and lifestyle. This allows us to intervene in a more targeted way," says Köttgen.

Actively protecting heart health

"Cardiovascular diseases are still a widespread health risk and the most common cause of death in Germany," says Prof. Dr. Dirk Westermann, Medical Director of the Department of Cardiology and Angiology at the Freiburg University Medical Center. Thanks to improved diagnostics and new therapies, the rate has fallen significantly in recent years. "Heart research has a very direct and positive impact on people's lives," says Westermann. At the same time, it is important to implement the existing findings. In addition to drug therapies, exercise, nutrition, stress management and a smoke-free lifestyle play a key role in prevention. "We must continue to raise awareness in society in this area."

New therapy for rare genetic disease

Not all diseases affect large population groups. Around four million people in Germany are affected by rare diseases, which are often associated with a long diagnostic pathway. Nevertheless, there are increasingly good ways to help those affected. In a recent study at the University Medical Center Freiburg, researchers investigated a rare genetic disease that leads to uncontrolled immune reactions. "Our investigations show that a genetic defect triggers excessive activation of immune cells. This can lead to autoimmune diseases, allergies and swelling of the lymph nodes," says study leader Prof. Dr. Stephan Ehl, pediatrician, Director of the Institute for Immunodeficiency at the Freiburg University Medical Center and member of the Cluster of Excellence CIBSS - Centre for Integrative Biological Signalling Studies at the University of Freiburg.

Based on the findings, the team was able to offer patients a targeted therapy: Instead of broad-acting immunosuppressants such as cortisone, so-called JAK inhibitors are used, which regulate the dysregulated signaling pathway. They improve disease control and reduce side effects.