Wir überwinden Grenzen

Focus on neuromuscular hereditary diseases with mostly severe progression/testing of innovative therapies for rare diseases

Prof. Dr. Janbernd Kirschner has been Medical Director of the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg since 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 a senior physician and research group leader at the Medical Center - University of Freiburg. In 2019, he took up a W3 professorship in neuropaediatrics at the University of Bonn and is now returning to University of Freiburg. At the Medical Center - University of Freiburg, Kirschner and his interdisciplinary team take care of infants, children and adolescents with injuries, malformations or diseases of the brain, nerves or muscles.

Sensational progress in the treatment of spinal muscular atrophy (SMA)

One focus of his clinical research is on neuromuscular hereditary diseases that are usually severe and have a short life expectancy. These include spinal muscular atrophy (SMA). With around 1,500 people affected in Germany, SMA is a rare disease, but is also one of the most common genetic causes of death in infants and young children. It leads to the death of certain nerve cells in the spinal cord. Because stimuli and impulses from the brain therefore do not reach the muscles, the consequences are muscle atrophy and paralysis. If left untreated, the worsening symptoms of infantile SMA ultimately lead to permanent respiration and death. However, sensational progress has been made in treatment in recent years: "The gene therapy for SMA, which has been approved since 2020, is particularly noteworthy. This involves introducing the missing genetic information into the body with the help of a viral vector via a single infusion. The nerve cells can then use this blueprint for many years," explains Kirschner.

Research team has set up a register

In order to evaluate the long-term effectiveness and safety of these therapies, he and his research team in Freiburg have set up a corresponding register. "Therapy research for rare diseases can only succeed through intensive national and international networking," says Kirschner. 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 registry. "In the medium term, we naturally hope to be able to treat other hereditary diseases with such innovative therapies and are participating in corresponding studies," Kirschner added.

Image source: Medical Center - University of Freiburg

Contact:
Prof. Dr. Janbernd Kirschner
Medical Director
Department of Neuropediatrics and Muscle Disorders
Center for Pediatrics
Medical Center - University of Freiburg
janbernd.kirschner@uniklinik-freiburg.de
Phone: 0761-270-43150