Chromatinopathies lend themselves well to preclinical research because we can look at the effects of the genetic defect at different levels (translational research). A genetic defect often results in an imbalance in neurobiological processes and teaches us more about the mechanisms underlying these complex disorders. But also about the connection with e.g. metabolism, immunological and gastrointestinal disorders.
In a national consortium, we conduct preclinical research into chromatinopathies in addition to clinical research.
New techniques make it possible to process skin or blood cells of patients into stem cells, which can then grow into, for example, a nerve cell or even a so-called brain organoid that mimics the structure and function of certain brain areas in miniature. With these techniques, we can, for example, test medicines or investigate the precise function of a certain cell, a gene or an underlying mechanism. This research often takes years, but is important in order to gain more insight into the biological mechanisms underlying these conditions in the long term and can ultimately contribute to the development of new therapies.
Here you can read more about such a preclinical study, in which the cause of the sex difference is investigated in the rare SETD1B syndrome, using brain organoids.
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