The human DNA is densely packed and located in the nucleus of the cell. When certain genes are supposed to be read, the DNA must be present in a readily accessible, loose structure. The nuclear component chromatin, which contains of DNA wrapped around proteins, determines this structure. Errors in the chromatin structure can lead to disease, most of which are rare, i.e. have a frequency of <0.05% (1/2,000). Malformations and variable degrees intellectual disability are typical manifestations in These diseases. Despite their similar symptoms, little is known about the underlying mechanisms leading to these symptoms. A better understanding of the molecular basis is necessary to develop possible therapeutic approaches.
Our research group Chromatin-Net investigates various diseases all based on a modified chromatin structure. We combine a number of different methods to characterize the diseases at the clinical and molecular levels. The analysis of the patients' clinical data will be carried out using systematic criteria. Computer-based systems are utilized to group individuals based on similar symptoms, while genome sequencing provides comprehensive genetic information. In addition, cells isolated from individuals with these syndromes are used for the investigating disease mechanisms. This will help improve counseling for affected families and eventually provide the basis for future therapeutic approaches.
The „Network on cognitive impairment disorders with defective chromatin (CHROMATIN-Net)” is funded by the Federal Ministry of Education and Research (BMBF). Further information is available on the webpage of the Coordinating Office of the German Networks on Rare Diseases www.research4rare.de and on the webpage of the BMBF.