The gene mutation that causes Rett syndrome, a form of autism spectrum disorders (ASD), was discovered decades ago, but progress on treating it has lagged, at least in part because mouse model studies have not translated to humans. This study is therefore concerned with finding a model that better mimics the human brain. The researchers generated brain organoids using induced pluripotent stem cells (iPSCs) derived from patients with Rett syndrome, which preserve each patient’s unique genetic background, to study the disease and screen for potential treatments. They treated the brain organoids with 14 drug candidates that are known to affect various brain cell functions in an attempt to identify suitable therapies. Two of the substances could reverse the disease symptoms in the brain organoids to ‘near-normal’.
Pharmacological reversal of synaptic and network pathology in human MECP2-KO neurons and cortical organoids
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