Pheno-connectomics of human neurodevelopmental diseases

Title Pheno-connectomics of human neurodevelopmental diseases
Acronym PhenoConnectomics
Start date 2020-09-01
End date 2022-08-31
Sponsor Marie Skłodowska-Curie Action (MSCA)
Institution Institute of Molecular Biotechnology 5,0

Associated cell lines

Project Description

There is much we don't know about how neurons connect in our brains, but we know that their connectivity is essential for brain function in health and disease. Many psychiatric diseases coincide with the miswiring of the brain: to understand these, we need to know how neurons connect in each condition. I will develop a new approach to map single-cell synaptic connectivity, and use it to study joint connectome & transcriptome changes in an established monogenic autism spectrum disorder (ASD) organoid model. Change in synaptic connectivity is a key feature of ASDs, such as Rett-syndrome, which is caused by a mutation of the epigenetic regulator, MECP2. To understand how Rett-syndrome manifests on both transcriptional and connectivity levels, I will compare healthy & MECP2-KO human cortical organoids.