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The research project "Case Analysis and Decision Support"

In the European Union, a disease is considered rare if it affects fewer than five in 10,000 people. In Germany alone, it is estimated that around four million people live with a rare disease, while in the EU as a whole, around 30 million people are thought to be affected. About 80 percent of these rare diseases have genetic causes or are at least partially genetic, and they are usually difficult to cure.

Rare diseases are often a major challenge for the patients and their families. Just getting the right diagnosis can be an odyssey from one clinic to the next. On average, it takes five years from the onset of symptoms to a correct diagnosis, and requires numerous visits to different experts.

Without a correct diagnosis, however, it is impossible to make contact with other sufferers, identify suitable treatment options or make a prognosis for the future.

The CADS research project aims to enable patients suffering from an undiagnosed and possibly rare disease to receive a clear diagnosis. To achieve this, state-of-the-art experimental and bioinformatic methods will be used to analyse patients on a research basis. The project will identify new methods for diagnosing patients with rare diseases and transfer them to mainstream care to make them available to the general public.

CADS will be carried out in close collaboration with various clinical units of the Charité, which act as the first point of contact for patients without a diagnosis.

Although you, the patient, are at the centre of our work, we cannot treat you directly here at CADS.

Treatment can take place in clinics and centres that specialise in the treatment of your disease.

Do you suspect that you suffer from a rare disease? The staff at the Berlin Centre for Rare Diseases will be happy to help you.