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Researching and treating rare diseases throughout Europe

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The Medical Center – University of Freiburg has been part of ten European Reference Networks on Rare Diseases since 2017.

Around 30 million people in Europe suffer from one of 8,000 rare diseases. But very few patients who are affected by the same rare disease live together in one place. This complicates the necessary highly specialized treatment as well as the development of new therapies. In order to pool the exchange of knowledge and interdisciplinary care of patients with rare diseases at the Medical Center – University of Freiburg, the Freiburg Center for Rare Diseases was founded in 2009. In order to also improve the cross-border treatment and care of patients with rare diseases, in early 2017 the European Union together with its Member States launched 23 European Reference Networks (ERNs), each of which focusses on specific diseases.

The Medical Center – University of Freiburg participates in ten of these ERNs. The network members are characterized by wide treatment experience and the highest quality research into rare diseases. The aim is a pan-European exchange of knowledge between experts and non-participating physicians who can be offered support in the treatment of rare diseases.

Toddler with alarming laugh attacks

The boy was suffering epileptic seizures five times a day, when the family first presented the eight-month-old child at the Medical Center – University of Freiburg. Drug therapy had so far been unsuccessful. The parents explained how the baby would laugh intensely over and over again. The doctors around Prof. Dr. Andreas Schulze-Bonhage, head of the Epilepsy Center at the Department of Neurosurgery in the Medical Center – University of Freiburg, and Dr. Alexandra Klotz, specialist at the Epilepsy Center, suspected a rare form of epilepsy in a deep brain structure; this was confirmed in high-resolution cross-sectional images of the brain. Only about seven children with this rare form of epilepsy are born each year in Germany.

While "laugh attacks" sound harmless at first, over time they often cause behavioral and mental development disorders. Therefore, the Freiburg doctors recommended an early surgical procedure: when the child was one and a half years old, a new minimally invasive procedure was used to partially disrupt the connection between the roughly pea-sized, seizure-triggering brain tissue and other areas of the brain. Already after that first treatment, seizures occurred only once a day. Since in this case the child is now developing completely normally, no further treatment is currently required.