Modeling IRF2BPL-related disorders

NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) or IRF2BPL-related disorder is a rare neurodevelopmental condition caused by mutations in the gene IRF2BPL. We are taking a multi-pronged approach to analyze the disease mechanism and to develop potential avenues for treatment of patients using organoids derived from patient stem cells. The project is carried out in collaboration with the lab of Prof. H. Rosewich (University clinic Göttingen) as well as a network of international collaborators, and is supported by the Eva Luise und Horst Köhler Stiftung, the Alliance4Rare, and multiple patient organizations.

Modeling neurodevelopmental aspects of Huntington’s Disease

We have a long-standing interest in modeling neurodevelopmental aspects of Huntington’s disease (HD) in order to understand the role of mutant Huntingtin. Recent results include an analysis of the metabolic effects of HD in brain organoids, and we have previously contributed to an organoid-based drug screen to identify novel potential targets for treating HD.

Computational analysis of disease phenotypes and drug screens

Our interdisciplinary lab works on a range of computational projects to develop methods tailored to the analysis of our experiments. One focus is the deep-learning-based analysis of drug screens on organoids.

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