Brain malformations in the spotlight

Study provides new level of clarity on cerebral cortex development

January 26, 2021

A study led by Silvia Cappello at the Max Planck Institute of Psychiatry provides the first detailed insights into the extremely complex processes associated with developmental malformations of the human brain. Together with her colleagues, Cappello has developed an integrative multi-level approach that will enable a better understanding of illnesses that develop from brain malformations. This is because although some causes of malformations of the cerebral cortex are known, the exact sequence of events that leads to them is still mostly unclear.

The research team observed how complex interactions at the genetic, cellular, and circuit levels of the neurons combine to contribute to the diverse and varied manifestations of disease. "Only when we better understand and link the processes that occur at all levels can we identify starting points and develop reliable predictions and, in the longer term, new therapeutic perspectives," Cappello explains.

As a first step, the team created an online resource ( ) that will provide other research groups with "maps" of gene expression during development of stem cells and neurons in mouse embryos, human embryos and cerebral organoids. The study, recently published in the top-ranking journal Science, is critical for classifying diseases. "We are making important progress with this approach. It will allow us to better assess an individual's risk of disease and devise tailored diagnoses and therapies in the future," Cappello summarized.

The cerebral cortex, or cortex, is a complex structure that underlies many human abilities such as language and thinking. It functions through specialized neuronal cells that emerge during development as a result of complex molecular and cellular interactions. If one or more of these steps is faulty, the development of the cortex is disrupted, resulting in neurological illnesses such as epilepsy.


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