Developmental Disorders of the Nervous System

The working group Developmental Disorders of the Nervous System under the leadership of Prof. Dr. Markus Schülke-Gerstenfeld-Gerstenfeld is occupied with the researching of genetic causes of congenital developmental disorders of the nervous system. These include various forms of epilepsy and also diseases of the mitochondria (power stations of the cells), the nerves (neuropathies) and the muscles (myopathies). Our aim is to uncover new pathomechanisms and to use this knowledge to develop treatment methods. To achieve this, we aim for close links, cooperation and efficient channels of communication between patient care, clinical research and laboratory work.

Research focus

Many control genes are involved in the development of the brain and these must be switched on and off at the right time so that the nerve cells find the right connections (synapses) with each other. A dysfunction of such genes can lead to epilepsies, autism or mental disability. In addition to this, other genes are important for the maturation (myelination) of the central and peripheral pathways. If genes that play an important role in this are disrupted, the patients often suffer from muscle weakness, muscle atrophy or impairments in balancing and walking (ataxia). All of the diseases named above are rare and occur in the population with a frequency below of one in every two-thousand people. With the techniques for reading genetic information (sequencing) there has been increasing success in the tracing of the genetic causes of such diseases and the understanding of the mechanisms by which the diseases arise. This understanding provides the vital pre-condition for developing cause-based treatments. Furthermore, the discovery of a genetic defect makes it possible to give genetic counseling to families with effected children and to offer pre-natal testing if there is a continued wish to have children.

Group leader

Prof. Dr. med. Markus Schülke-Gerstenfeld
Markus Schülke-Gerstenfeld is the Professor for Experimental Neuropediatrics at the Charité. He undertook his medical studies at Homburg (Saar), Berlin, Dublin and Hong Kong. After clinical activities at the University Children's Clinic Cologne, in Allahabad (India) and a visiting research fellowship at the Nijmegen Center for Mitochondrial Disorders (Netherlands), Markus Schülke-Gerstenfeld started his work at the Charité in 1995. Since 1999 he has been a specialist for pediatrics (additional designation "neuropediatrics" since 2007) and as senior physician at the Clinic for Pediatrics with special focus neurology at the Charité Campus Virchow. In his work, Professor Schülke-Gerstenfeld combines medical expertise with biochemical and molecular genetic research. The focus of his research interest is mainly upon genetically caused childhood diseases, especially developmental disorders of the central and peripheral nervous system and neuromuscular diseases.