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Research Programme » Functional Genomics

Functional Genomics

Programme Coordinator

 

 

Radislav Sedláček, Ph.D. (CV pdf)
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Programme Description
One of the key challenges in biomedical research is to attribute biological functions to all identified human genes. In the postgenomic era, in which genes and genomic organization of the human and other genomes were identified, there is a huge demand to assign the function of individual genes in their complex networks. Laboratory mouse and rat have become essential experimental models for this functional annotation of human genome. The programme Functional Genomics will be build on pillars for which an all-encompassing term of ‘phenogenomics’ can be used. These pillars involve functional and comparative genomics combined with genetic engineering. The thematic part of the program will focus on areas of metabolic diseases accompanied with studies in liver, cardiovascular systems, and on analysis of auditory (hearing) and visual (eye) organs. The program will be supported by the central platform for phenotyping, transgenesis, and archiving (CCP) that enables the researches to develop dual activity: to identify genes vital for the function of specialized physiological systems and to validate them as therapeutic targets.

Research outcomes

  • Establishment of an expert centre for phenogenomics, the Czech Centre for Phenogenomics (CCP), that builds on three pillars: generation of mutant models, their phenotype analysis, and their archiving and distribution
  • Building a national node for functional annotation of genes within the frame of European infrastructures INFRAFRONTIER and EMMA; this platform will provide services for analyses of phenotypes of mutant models using bottom-up and top-down principles
  • Description of genetic determinants of cardiovascular and metabolic failures that often occur simultaneously and are diagnosed as a metabolic syndrome
  • Identification of genes, which are involved in the function and disease of the liver and influence the development of the metabolic syndrome; generation of conditional mouse mutants to reveal their specific liver functions
  • Elucidation of the genetic background of inherited or age-related hearing loss employing mouse genome analysis and generation of mouse mutant models
  • Generation of transgenic Cre-recombinase mice to study functional genomics of the early retina and adult cornea
  • Characterization of the Wnt signalling pathway in the eye tissues
  • Revealing the function of individual lipocalins
     

Application potential
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.

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