by A groundbreaking analysis, published in Science on May 23, 2023, sheds light on the intricate genetic variations in brain cells, potentially paving the way for innovative targeted treatments for neuropsychiatric conditions such as schizophrenia and Alzheimer’s disease.
This research is the outcome of a collaborative effort, PsychENCODE, founded in 2015 by the National Institutes of Health, which aims to explore genomic influences on neuropsychiatric diseases. The study was released concurrently with related research in Science, Science Advances, and Science Translational Medicine.
Mark Gerstein, the Albert L. Williams Professor of Biomedical Informatics at Yale School of Medicine and the senior author of the study, explains that previous research has established a robust link between genetics and the likelihood of developing neuropsychiatric diseases. “The correlations between genetics and susceptibility to these brain diseases are much higher than for cancer or heart disease,” says Gerstein. “If your parents have schizophrenia, for instance, you’re more likely to develop it than heart disease if your parents have the disease. The heritability for these brain-related conditions is quite large.”
However, the mechanism behind how this Genetic Variation leads to disease remains elusive. Gerstein adds, “We want to understand the mechanism. What is that gene variant doing in the brain?”
To address this question, researchers embarked on a mission to better comprehend the genetic variation across individual cell types in the brain. They executed several single-cell experiments on over 2.8 million cells extracted from the brains of 388 individuals, including healthy individuals and those diagnosed with schizophrenia, bipolar disorder, autism spectrum disorder, post-traumatic stress disorder, and Alzheimer’s disease.
From this extensive pool of cells, the researchers identified 28 distinct cell types. They then scrutinized gene expression and regulation within these cell types.
One of the analyses revealed that gene expression could be linked to variants in upstream regulatory regions, which are sections of genetic material located before the gene itself and can influence the gene’s expression.
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1. Source: Coherent Market Insights, Public sources, Desk research
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