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New Medical Director for the Department of Neuropediatrics and Muscle Disorders

[28.05.2022]

Prof. Dr. Janbernd Kirschner has been appointed Medical Director of the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg as of April 1, 2022. After completing his studies and specialist training, Kirschner initially conducted research at the Children's Hospital of Philadelphia, USA, before working as senior physician and research group leader at the Medical Center - University of Freiburg. After he accepted a call to the W3 professorship for neuropediatrics at the University of Bonn in 2019, he has now returned to Freiburg. At the Medical Center, Kirschner and an interdisciplinary team treat infants, children and young people with injuries, malformations or diseases of the brain, nerves or muscles.

Remarkable advances in the treatment of spinal muscular atrophy (SMA)

One focus of his clinical research is neuromuscular hereditary diseases, which usually take a severe course and come with a low life expectancy. This includes spinal muscular atrophy (SMA). With around 1,500 people affected in Germany, SMA is one of the rare diseases, but it is also one of the most common genetic causes of death in infants and young children. It causes certain nerve cells in the spinal cord to die off. Because stimuli and impulses from the brain do not reach the muscles, the consequences are muscle atrophy and paralysis. If untreated, the worsening symptoms of infantile SMA ultimately lead to permanent ventilation and death. In recent years, however, sensational advances in treatment have been made: "The gene therapy of SMA, which has been approved since 2020, is particularly noteworthy. The missing genetic information is introduced into the body with the help of a virus vector in a single infusion. The nerve cells can then use this blueprint for many years,” explains Prof. Kirschner.

Register set up by research team

In order to evaluate the long-term effectiveness and safety of these therapies, he and his research team in Freiburg have set up a register. "Therapy research for rare diseases can only succeed through intensive national and international networking," Prof. Kirschner says. For the German healthcare system, the Federal Joint Committee (G-BA) recently decided that all patients treated with gene therapy must be recorded and monitored in the register. "In the medium term, of course, we hope to be able to treat other hereditary diseases with such innovative therapies and we are participating in corresponding studies," Kirschner adds.

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