June 21, 2024
Gene Regulation

Unraveling the Complex Connection Between Genetic Risk and Brain Changes in Autism: A Groundbreaking Study by UCLA Health

A recent study spearheaded by UCLA Health has shed new light on the intricate biological mechanisms underlying autism, marking the first link between an individual’s genetic predisposition to the disorder and observable cellular and genetic activity across various layers of the brain.

The study, entitled “Molecular cascades and cell type–specific signatures in ASD revealed by single-cell genomics,” is part of the second batch of research from the National Institutes of Health (NIH) consortium, PsychENCODE. Launched in 2015, the initiative, led by UCLA neurogeneticist Dr. Daniel Geschwind, aims to create comprehensive maps of Gene Regulation  across different regions of the brain and various stages of brain development.

The consortium’s objective is to bridge the gap between genetic risk studies for various psychiatric disorders and the potential causal mechanisms at the molecular level. According to Geschwind, these studies, both individually and collectively, represent an unparalleled resource for understanding the connection between disease risk and genetic mechanisms in the brain.

Geschwind’s research on autism, one of nine studies published in the May 24 issue of Science, builds upon decades of work by his team, which has identified genes that increase the likelihood of autism spectrum disorder (ASD) and defined the convergent molecular changes observed in the brains of individuals with ASD. However, the driving factors behind these molecular changes and their relationship to genetic susceptibility at the cellular and circuit level remain elusive.

Traditional gene profiling for ASD has been limited to using bulk tissue from autistic individuals’ brains after death. These tissue studies, while valuable, cannot provide the detailed information required, such as differences in brain layer, circuit level, and cell type-specific pathways associated with autism, as well as mechanisms for gene regulation.

To overcome these limitations, Geschwind employed advances in single-cell assays, a technique that allows researchers to extract and identify the genetic information in the nuclei of individual cells. This technique enables scientists to traverse the brain’s intricate web of diverse cell types, providing unprecedented insights into the complex interplay between genetics and autism.

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1. Source: Coherent Market Insights, Public sources, Desk research
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