Genomic analysis of interited children's diseases

Between four and six percent of infants and small children are estimated to be born with congenital disorders worldwide. How can we improve our understanding of the molecular causes, characterize these congenital disorders, and thus offer better diagnosis and treatment of them? A consortium coordinated by Prof. Christian Rosenmund (Charité and speaker of the NeuroCure Cluster of Excellence) and Prof. Carmen Birchmeier (MDC) is focusing on this question. A key aspect of this project involves the detailed medical examination of each patient, accompanied by a comprehensive genomic analysis. This can contribute to a better understanding of disease mechanisms and point to paths for new types of therapy. 

Towards a better understanding and diagnosis of congenital disease


Prof. Christian Rosenmund
Neuroscience Research Center, Charité - Universitätsmedizin Berlin

Prof. Carmen Birchmeier
Max Delbrück Center for Molecular Medicine Berlin-Buch

Three questions for Prof. Christian Rosenmund on the research project

Prof. Christian Rosenmund
Prof. Christian Rosenmund

1. What is the consortium’s overriding goal?

Our focus is on innate, genetically determined diseases. These diseases are extremely complex; therefore investigating and detecting them quickly and with certainty remains difficult. In addition, in most cases treatment is oriented toward improving symptoms and not so much toward combating the causes. The underlying reason for this is our insufficient knowledge concerning these diseases. The goal of our consortium is to introduce the most up to date technologies into clinical diagnosis, to better understand the molecular mechanisms that cause dysfunction, and on this basis to develop new therapeutic approaches.

2. What defines your project’s translational and systems medicine approach?

We are working together in a team of ten scientists and clinicians to explore the mechanisms of genetic diseases, identify mutations, and on this basis develop new treatment options. Those participating are specialists in neurology, cardiology, endocrinology, nephrology, and the skeletal system, cooperating closely with mathematicians, experts in bioinformatics, molecular biologists, and biochemists. With the help of the most modern techniques of genome sequencing and analysis, we are working to identify the genetic causes of individual congenital diseases. Over recent years the technology of genome analysis had been revolutionized; it now allows researchers to decipher the entire genome of individual patients at moderate cost. Even the genomes of healthy people contain many harmless mutations — what is of decisive importance for us is identifying the dangerous, disease-causing genomic alterations. Of great help here are new analytic methods from other disciplines. As soon as we recognize a disease-causing mutation, we focus on the question of how this mutation triggers the disease. Subsequently, we can begin to develop therapies. The new methods of genomic analysis will be integrated into everyday clinical practice, for the sake of shortening diagnostic pathways.

3. How can patients benefit from your research?

A basic principle of any medical procedure is recognizing the patient’s problem and understanding its medical cause in order to be able to intervene in a targeted manner. In our research consortium we would like to improve the preconditions for this process. Timely diagnosis shortens the patient’s ordeal, allowing us to avoid unnecessary procedures and introduce targeted therapeutic measures. Furthermore, at the moment a diagnosis is made patients and family members gain a certain degree of clarity, allowing them to cope more easily with the particular situation. It is equally important to be able to speak clearly about the course of the disease and begin therapeutic measures in a timely way.


  1. Common pathways and transcription network control in intellectual disability and microcephaly: Angela Kaindl (Charité), Christian Rosenmund (Charité)
  2. Towards a better understanding of congenital endocrine diseases: Carmen Birchmeier (MDC), Heiko Krude (Charité)
  3. Mis-regulated chromatin folding as a cause of congenital disease: Stefan Mundlos (Charité), Ana Pombo (MDC)
  4. Integrative omics-based dissection of molecular mechanisms underlying congenital abnormalities of the kidney and the urinary tract: Wei Chen (MDC), Dominik Muller (Charité)
  5. Transcription network controlling heart development and congenital heart disease: Uwe Ohler (MDC), Silke Rickert-Sperling (Charité)