Many genes that confer a high risk for developing autism spectrum disorder (ASD) are critical for the development of the human cortex. Although clinical studies have shown a causal relationship between several gene mutations and autism, it is still unclear how these mutations lead to developmental brain disorders. Due to the fact that the human brain is unique, animal models are limited.

Therefore, researchers from the groups of Prof. Jürgen Knoblich from IMBA and Prof. Barbara Treutlein from the ETH Zurich developed a technique called "CHOOSE" (CRISPR-human-organoids-scRNA-seq). This technique can be used to study a complete set of DNA transcriptional regulator genes associated with autism. The genes can be examined simultaneously in a single organoid. To analyze this complex data set, co-corresponding author Barbara Treutlein and her team  used quantitative bioinformatics and machine learning approaches.

The scientists were able to show that mutations in 36 genes known to cause a high risk of autism lead to specific changes in the cell types of the developing brain. They found out that some cell types are more susceptible than others during brain development; they  identified the networks that are most susceptible to autism mutations.

The results were published Journal Nature:
Li, C., Fleck, J.S., Martins-Costa, C. et al. (2023). Single-cell brain organoid screening identifies developmental defects in autism. Nature 621, 373-380. https://doi.org/10.1038/s41586-023-06473-y

More information:
https://www.bionity.com/de/news/1181551/hat-das-menschliche-gehirn-eine-achillesferse-die-zu-autismus-fuehrt.html?utm_source=newsletter&utm_medium=email&utm_campaign=bionityde&WT.mc_id=ca0264

Laboratory Animal of the Year: The Mice in Autism Research:
https://www.invitrojobs.com/index.php/en/news/news-archive/item/6055-laboratory-animal-of-the-year-2023-the-mouse-in-autism-research