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Onderzoeker

Geert Mortier

  • Onderzoeksdoeleinden:The research activities are mainly situated in the field of human genomics. The mission of our research is to increase the knowledge of the molecular basis and disease mechanisms causing genetic disorders of the skeleton (skeletal dysplasias). With our research we aim to provide new insights in the biology of normal skeletal development, improve genetic diagnosis and counselling for the patients and enable the development of new therapeutic strategies for this group of rare and chronic disorders. Since many of these disorders are characterized by (disproportionate) short stature and/or degenerative joint disease, our research also contributes to the better understanding of more common disorders in the population such as osteoarthrosis in adulthood and growth disorders in childhood. The major goals of our research are i) to identify genes that are important in the regulation of linear growth, endochondral ossification, bone homeostasis and maintenance of cartilage integrity, ii) to explore the phenotypic consequences of mutations in these genes, iii) to gain more insights in the pathophysiology and genotype-phenotype correlations of these disorders and iv) to develop new therapeutic possibilities for this group of disorders
  • Trefwoorden:SKELETSTOORNIS, MOLECULAIRE GENETICA, GROEIREGULATIE, KRAAKBEEN, Geneeskunde
  • Disciplines:Analyse van next-generation sequence data, Klinische genetica en moleculaire diagnostiek, Genetica
  • Onderzoekstechnieken:next generation sequencing, array based techniques, animal models, iPSCs, functional assays, bioinformatics
  • Gebruikers van onderzoeksexpertise:Doelgroepen zijn patiënten(organisaties), onderzoekers, industrie, zorgverleners, politici in de gezondheidszorg