Ymchil

Traethawd ymchwil

Investigating connectivity alternations in schizophrenia linked 22q11.2 deletion syndrome using human brain organoids

There is clear evidence that our genetic make-up influences risk for developing a mental disorder, but we need to understand more about the mechanisms involved. 22q11.2 deletion syndrome (22q11DS) is a genetic risk factor associated with very high rates of schizophrenia and autism. We will combine knowledge of 22q11DS with advanced human stem cell techniques to investigate how this genetic lesion causes altered neuronal development and activity. This will improve our understanding of neurodevelopmental disorders such as autism spectrum disorders and schizophrenia.

We will use induced pluripotent stem cells (iPSCs) derived from patients with 22q11DS to form 3D cell structures (organoids) that mimic aspects of the human brain and use them to study changes in patterns of neuronal cell activity using multi electrode arrays. We will then investigate how potential drugs may suppress these changes. The knowledge gained will provide new insights into disease mechanisms with the aim of identifying therapeutic strategies.

Ffynhonnell ariannu

The Hodge Foundation

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