PD. Dr. rer. nat. habil. Radislav Sedláček — Program head
Functional Genomics
The genomes of humans, mice and many other species have been completely sequenced; nevertheless the knowledge of genome sequences as such does not shed light on questions concerning the functions of these sequences. Among the unanswered questions are those regarding the functions of most of the genes that encode proteins; the number of these genes is estimated to be 20 000. In order to describe biological functions of a gene, an informative modification (mutation, for instance a conditional deletion) must be inserted into the genes.
In order to annotate the function of human genes, functional (pheno)genomics needs to be combined with comparative genomics – the function of the human genome should be inferred from the function of an orthologous genetic product, e.g. from the mouse.
In recent years, mouse and rat models have been considered excellent models in the search for functions of genes within complex organisms as most of their physiological functions are very similar to those of humans and, also, their genetic differences are minimal (in comparison to other non-mammalian models). Although characterization of the function of a particular gene product (i.g. protein) in vitro delivers important information about molecular mechanisms, the verification of their real functions cannot be done without an intensive research at the level of complex organisms and their distinct physiological systems.
Functional genomics research program is based on previous work of a few research groups that have built up a substantial expertise and have already attained considerable scientific results in this field.
Goals
Supported from a robust and standardized phenotyping platform offering a functional screening of almost all physiologic body systems, the groups of this program aim to identify and characterize genes representing new potential targets to treat various human diseases. Main effort focuses on metabolic syndrome and physiologic functions interrelated with this complex human disease. Identified genes and genetic determinants will be then scrutinized for their potential to employ them as therapeutic targets. Beside the liver and metabolic disorders, research projects will focus also on visual and auditory systems whose correct functions is of enormous importance for human’s life quality and well-being. Genes important for the physiologic systems will be identified, examined, and prove whether they could serve as a diagnostic markers or therapeutic targets. Once the therapeutic potential is proved researches will together with drug developing groups or companies study the drug efficacy employing the know-how, capacity, and experimental models of the CCP.