Head of the section: Dr. Dimitra Micha

SUBSECTION CENTER FOR CONNECTIVE TISSUE RESEARCH

Pre-clinical Research to Develop Treatments for Hereditary Bone Diseases

The Center for Connective Tissue Research (CCT) is focused on the study of bone disorders caused by the disruption of a single gene.

Research at CCT is mainly focused on hereditary diseases which show a range of complex clinical manifestations, ranging from osteoporosis (weakening of bones) to severe skeletal dysplasia. We also study disorders with high bone thickness or ectopic bone formation, like osteogenesis imperfecta (OI), fibrodysplasia ossificans progressiva, hereditary osteoporosis, fibrous dysplasia, and Camurati-Engelmann disease. In addition to monogenic bone disorders, hereditary cardiovascular diseases such as Marfan and Ehlers Danlos syndrome are also subjects of investigation.

“The advancement of cell-based models is critical for new gene discovery. They also improve insight in the mechanisms of hereditary connective tissue disorders and the development of meaningful therapy for these rare but severe disorders.” – Dr. Dimitra Micha

Our aim is to uncover the genetic underpinnings and understand how mutations in recognized genes cause these diseases. Currently, there are no effective treatments for patients affected by these hereditary conditions. To meet this urgent need, we are developing preclinical models which faithfully recapitulate the disease pathology in the affected tissue. These models will offer opportunities to interrogate the pathogenicity of identified genetic variants, explore the underlying molecular mechanism, and serve as platforms for drug screening.

Link to website.

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