Georgia Makri

TL;DR: This study reveals that a psychiatric disorder relevant mutation causes synapse deficits and transcriptional dysregulation in human neurons and the findings provide new insight into the molecular and synaptic etiopathology of psychiatric disorders.

TL;DR: The generation and characterization of 14 induced pluripotent stem cell (iPSC) lines from HD patients and controls reveal CAG-repeat-expansion-associated gene expression patterns that distinguish patient lines from controls, and early onset versus late onset HD.

TL;DR: In insight into how CYFIP1 regulates neural stem cell function and may contribute to the susceptibility of neuropsychiatric disorders, targeted human genetic association analyses revealed an epistatic interaction between CYFip1 and WAVE signaling mediator ACTR2 and risk for schizophrenia.

TL;DR: The BMPS provides a suitable and reliable model to investigate neuron-neuroglia function as well as pathogenic mechanisms in neurotoxicology and provides an excellent tool for future studies of neurological disorders such as multiple sclerosis and other demyelinating diseases.

TL;DR: The goal is to demonstrate the feasibility of the personalized model using iPSCs derived from individuals with neurodevelopmental disorders caused by known mutations and chromosomal aberrations, which will be a versatile tool for more complex testing platforms and strategies as well as research into central nervous system physiology and pathology.