An understanding of brain abnormalities and human cognition, More Details Inside

One characteristic of human evolution that sets humans apart from other apes is the development of human intellect. Only a small portion of the more than 100 million mutations that have occurred since the human and chimpanzee split has been demonstrated to be significant.

Researchers from the National Institutes of Health (NIH) used computer modelling to identify abnormalities in the human genome that are probably responsible for altering the evolution of human intelligence. This ground-breaking human genomics research could improve our knowledge of human health and pave the door for the development of innovative therapies for difficult brain illnesses.

The results of the investigation were published in Science Advances.

Brain abnormalities and human cognition

One characteristic of human evolution that sets humans apart from other apes is the development of human intellect. Only a small portion of the more than 100 million mutations that have occurred since the human and chimpanzee split has been demonstrated to be significant.

To assist them to navigate this vast landscape of genetic changes, scientists from the National Library of Medicine (NLM) and the National Cancer Institute (NCI) created an artificial intelligence (AI) model of gene regulation in the human brain. The model found hundreds of mutations that, through altered brain gene regulatory pathways, are probably impacting neocortical development and boosting the acquisition of mathematical ability.

When the human genome was sequenced in 2001, scientists discovered that only 2% of our genome’s sequence is occupied by genes that code for proteins. This is the sequence data that every cell is using. The remaining 98 per cent of our DNA, sometimes referred to as “noncoding DNA,” is still mostly unknown. It is estimated that these non-coding regions of our genome include 95% of the illness correlations.

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The research teams of Sridhar Hannenhalli, PhD, senior investigator in the NCI’s Center for Cancer Research, and Ivan Ovcharenko, PhD, senior investigator in the Computational Biology Branch of the NLM Intramural Research Program collaborated to develop an AI model that assesses the impact of noncoding genome mutations on human brain function and development.

As a result, a collection of noncoding mutations affecting brain regulatory circuits and perhaps resulting in several complex brain illnesses, including autism, were discovered.

The human genome contains “treasure islands” of noncoding DNA that are vital for controlling human genes, according to Dr Ovcharenko.

“The majority of these changes are harmless, but there is a class of mutations that negatively affects the operation of the brain’s regulatory regions and the cellular activity there. We are making progress towards understanding the mechanism of complicated diseases and disorders and opening the door for the creation of novel therapeutic strategies by being able to address the effects of particular mutations.”

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