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What are the causes of genetic diseases? At Charité, both researchers and physicians are looking for answers to this question. Charité's Institute of Medical Genetics and Human Genetics is work-ing closely with the Max Planck Institute (MPI) for Molecular Genetics. Together, they have been able to develop pioneering diagnostic methods, as well as succeeding in decoding complex genet-ic processes. This close cooperation has been of particular benefit to patients with rare hereditary diseases, as any progress made is directly translated into clinical practice at Charité.

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Hunting for genes

Charité's genetics division combines basic research and clinical practice in an exemplary fashion, with researchers working closely with the Departments of Pediatrics and Adolescent Medicine, the Breast Center, and many other units. Research findings are translated into new diagnostic meth-ods, some of which are then used within the field of pediatrics and adolescent medicine.

Our geneticists are the leading experts in the field of high-throughput genome analysis. A new pro-gram, developed by researchers from Charité, Labor Berlin – Charité Vivantes GmbH, and MPI, combines the results of genetic testing with information from a symptoms database. This Human Phenotype Ontology database contains the symptoms of all known genetic diseases, and stores them in digital format. The new program, which is known by the name of 'PhenIX', uses these to produce a list of possible diagnoses, thereby making a major contribution to the early detection of rare genetic diseases. For its analysis, the program takes into account information on all currently-known disease genes, of which there are approximately 3,000.

New diagnostic methods

The process of confirming or ruling out a genetic disease starts with a consultation at our outpatient clinic. This is where physicians provide patients and their families with the personal attention and support they need while undergoing investigations to confirm or rule out a genetic disease. Comprehensive advice and support are complemented by innovative genetic testing (provided by Labor Berlin – Charité Vivantes GmbH since 2011). Charité’s genetics division works closely with the Departments of Pediatric and Adolescent Medicine, the Breast Center, and many other units. Our physicians utilize the latest research findings to develop new diagnostic methods which are then used in other departments, such as the Departments of Pediatrics and Adolescent Medicine. Our geneticists are the leading experts in the field of high-throughput genome sequencing, technologies which are capable of producing comprehensive genome analyses of nearly all known genetic diseases.

Phenotyping with global impact

Charité researchers have recorded unparalleled achievements in the fields of modern genomic diagnostics and bioinformatics. The ‘Human Phenotype Ontology (HPO)’ (used by the PhenIX computer program for the diagnosis of rare genetic diseases) was first developed in collaboration with the MPI and is now used by researchers all over the world. The Ontology describes the phenotypic features recorded in relation to human diseases (in particular genetic diseases). It serves as a tool for the analysis and evaluation of phenotypic features using bioinformatics and other forms of computational analysis.

Decoding hereditary diseases

Within the field of genetics, Charité's main areas of research focus include the identification and analysis of disease mechanisms, biocomputational analysis, the analysis and linking of clinical symptoms (phenotype) with genetic variants, as well as the development of genetic testing sys-tems and their implementation in clinical practice. One particularly important area of research is the regulation of gene expression and its investigation using animal models. New techniques have been developed that allow researchers to recreate genetic changes affecting human genes within the mouse genome. This method of using mice as models for the study of rare human genetic dis-orders is often the only way for researchers to find out more about the disease and develop treat-ments.

Within the field of genetic research, Charité and MPI work together closely. At the MPI, for in-stance, the Development & Disease Research Group (Forschung & Entwicklung) is investigating the fundamental mechanisms of skeletal development, and the way in which this process is influ-enced by gene regulatory elements. The team is also investigating the mechanisms underlying gene mutation, and their effects on bone development. The strength of this research lies in the close interplay between basic research into the regulation of gene expression, and the use of modern genome analysis methods in the screening of patients with different skeletal disorders. By untangling and identifying the causes of skeletal malformations, these researchers are creating the basis for new treatment approaches in patients with genetic disorders. They are also gaining a deeper understanding of the interplay between regulatory elements of the human genome, whose exact mechanisms and dynamics remain a mystery.

Close cooperation with BCRT

Charité's genetics expertise also extends to the field of regenerative medicine, where it has forged a close cooperation with the Berlin-Brandenburg Center for Regenerative Therapies (BCRT). Ge-netic methods of analysis, such as high-throughput genome analysis, and the analysis of mecha-nisms of stem cell differentiation, are used to develop new, personalized treatments that target specific molecular defects. One area of interest shared by both partners is the study of skeletal and connective tissue disorders, in addition to their regenerative potential.