In this project, patients with a developmental disorder are identified who carry a mutation that is potentially amenable for correction by antisense oligonucleotide (ASO) therapy. In order to develop and test such a personalized medicine, stem cells are generated from the patient's blood cells. These stem cells are then differentiated into brain cells, on which the mutation-specific ASO will be tested to investigate whether the function of the brain cells can be restored.

The researchers hope that this study is the prelude to the routine development of tailor-made treatment for a large group of serious conditions that are hitherto untreatable. In the development of such therapies, DCRT is a very important partner.