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.

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.

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.