Rare Diseases

A disease is considered to be „rare“, when it affects no more than one in 2,000 people. This means that about 8,000 diseases are rare. Although a specific rare disease may only affect a handful of people worldwide, the picture changes if one looks at all rare diseases as a whole: An estimated four million people live with a rare disease in Germany alone.

Rare diseases are not always, but very often inherited or congenital conditions. Nevertheless, it often takes many years until a child with a rare disease receives a diagnosis. But a correct diagnosis is essential for deciding on potential therapeutic options and appropriate management strategies.

Center for Rare Diseases Göttingen

The Center for Rare Diseases Göttingen (ZSEG) follows an integrated approach that unites research, diagnostics and treatment relating to specific disorders or groups of disorders from various disciplines. The Institute of Human Genetics is an active partner in a number of specific centers. Bernd Wollnik is a member of the Management Board of ZSEG.


In two specialized centers, we work closely together with the Children’s Hospital and other Departments of the University Medical Center Göttingen: the Center for Progeroid Syndromes (diseases with premature or accelerated aging) and the Center for Undiagnosed Congenital Syndromes and Clinical Genome Medicine. In both centers, we offer specific clinics where affected children and their families have access to clinical and molecular diagnostics, genetic counselling and treatment provided by experts from different fields.

The investigation of progeroid syndromes and the elucidation of undiagnosed syndromic disorders are also key research areas at our Institute. We use the insights that we gain from our intensive research activities to directly inform clinical practice, thus ensuring that our patients receive state-of-the-art care.

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