Dimitra Micha

(Principal Investigator), DR.


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Research interests

The Centre for Connective Tissue is focused on the investigation of genetic disorders affecting the bone and cardiovascular tissues. Our aim is to identify new genetic causes and to understand how they can lead to the presentation of the disease. This is a crucial requirement for the future development of therapeutic options, which these patients are currently lacking. In order to achieve this, we are developing preclinical models which faithfully recapitulate the disease pathology in the affected tissue; these offer the possibility to interrogate the pathogenicity of identified genetic variants, explore their underlying mechanism and serve as platform for drug screening.

The study of Osteogenesis Imperfecta, Fibrodysplasia Ossificans Progressiva, and other monogenic (extra)skeletal disorders requires the use of osteoblasts which are obtained by bone biopsies, and are thus a rare event. I have developed a preclinical model by which patient skin cells can be directed towards the osteogenic cell lineage. In addition to disease modeling, we are using these cells to screen libraries of small molecules, which has led to the identification of candidate agents for effective therapy. Similarly, I have also derived a method to produce smooth muscle cells, for the dissection of the aortic pathology in Marfan syndrome and other monogenic cardiovascular disorders. The advancement of cell-based models is critical for new gene discovery, sufficient insight in the mechanism of hereditary connective tissue disorders and the development of meaningful therapy for these rare but severe disorders.

Collaborations and top research areas from the last five years

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