Four million people in Germany live with a rare disease, compared to around 30 million in the EU. Such a high number, and yet this one word remains: rare. For Europe, this means that a disease affects a maximum of one in 2,000 people, i.e. 0.05% of the population. In total, there are more than 6,000 known rare diseases, and around 250 new ones are added every year. Many of these rare diseases are still unknown, as are their causes. On the whole, however, it can be stated: The roots of such diseases often lie in genetics, and they usually have chronic, progressive and life-threatening courses.

The path to a diagnosis is often long and arduous, explains Prof. Beate Winner, Head and Spokesperson of the Centre for Rare Diseases at the University Hospital Erlangen: "Rare diseases often involve complex clinical pictures that are difficult to diagnose and require specialized expertise and interdisciplinary cooperation. This is bundled in centers for rare diseases such as the Center for Rare Diseases Erlangen (ZSEER), where diagnosis, care, therapy, teaching and research are linked together. Binding standards have been established here in recent years and ZSEERs have been set up at many German university hospitals. The ZSEER was founded in 2017 by the University Hospital Erlangen and the Faculty of Medicine at FAU Erlangen-Nuremberg and has been certified as the 15th German ZSE since 2024. Without such centers, many patients remain without a clear diagnosis and appropriate treatment for years." There are currently 36 of these centers in Germany, which do their best every day to make diagnoses and find treatment options.

When medicine becomes detective work

In these centers for rare diseases, people work every day to uncover the symptoms and irregularities of diseases. But research and development is also taking place elsewhere. New technologies and innovations can revolutionize the search for traces of rare diseases and thus medical diagnostics. Genome sequencing, for example, can help to diagnose rare diseases more quickly. The entire genetic material (genome) of a person is analyzed and examined for disease-causing variants. Winner reports on projects that are working intensively on this procedure: "Genetic diagnostics and personalized medicine are playing an increasingly important role. As part of new projects, such as the model project for genome sequencing in rare diseases financed by the health insurance companies, we expect to gain fundamental new insights. Under the leadership of Professor Thomas Meitinger (TUM), we have jointly conducted a research project in Bavaria in which specific genomes of patients with rare diseases were examined in order to identify more genetic causes."

Other methods and projects also demonstrate the potential for innovation in the field of rare diseases. Dr. Stefanie Dukorn, Head of Quality Management and Regulatory Affairs at numares AG, presents further methods. The company uses serum- and urine-based biomarkers for diagnostics: "We use nuclear magnetic resonance spectroscopy (NMR) to quantify numerous known and newly discovered biomarkers from a single sample. Machine learning identifies the few specific metabolites that are relevant for diagnosis. Metabolite analysis is a technique that can be used to diagnose rare diseases by determining the concentration of metabolites in blood or other body fluids. This analysis can help to identify changes in metabolism that may indicate specific diseases." After the sample has been taken and examined, the data can be compared and deviations identified. Indications of a disease can then be gained from the data.

Despite new approaches and technologies such as those from numares, Beate Winner still sees major challenges in the treatment of rare diseases: "Currently, there is only a treatment option for around 5% of rare diseases, so there is still a lot to do. The path to the right diagnosis and treatment is often long - more research and funding are urgently needed." Fortunately, modern medicine is already making progress. Patients with cystic fibrosis can now achieve a life expectancy of over 40 years. For comparison: in 1938, the average life expectancy was six months.

Towards a better future

Rare Disease Day is an important occasion to draw attention to these people and their diseases. Despite the fact that millions of people in Europe are affected, there is still great potential in medical care. It is therefore essential in the future to develop new technologies not only for the diagnosis, but also for the treatment and support of patients with rare diseases and to integrate them into care.

It is particularly important that specialized centers for rare diseases, such as the ZSEER in Erlangen, develop new ideas and solutions through interdisciplinary collaboration with innovative companies such as numares in order to continuously improve both diagnosis and treatment. But one thing remains clear: more research, more funding and greater awareness of rare diseases and the needs of patients are urgently needed. At Bayern Innovativ GmbH, we are committed to supporting innovations in the field of rare diseases and bringing together the relevant stakeholders. Only through a close exchange can hurdles be overcome together and new technologies developed that pave the way for a better future.