Katharina Buczek
So, senior investigator Ivan Ovcharenko from NLM’s Intramural Research Program joined forces with Sridhar Hannenhalli, a senior investigator from the NCI’s Center for Cancer Research.
And together, the team developed an AI model to measure the impact of noncoding genome mutations on human brain development and function.
This effort led to a group of noncoding mutations being identified. These mutations were found to disrupt brain regulatory pathways and even possibly cause numerous complex brain disorders– such as Autism spectrum disorder (ASD).
“There are treasure islands within the sea of noncoding DNA in the human genome that are critically important for regulating human genes,” explained Ovcharenko.
Most of the mutations in these regions are benign. However, a specific class of mutations can severely impact regulatory region function and affect cellular activity in the brain.
“By being able to address the impact of individual mutations, we are advancing towards understanding the mechanism of complex diseases and disorders and are paving the way for the development of novel therapeutic approaches,” Ovcharenko concluded.
Moving forward, the researchers believe this human genomics work will have a widespread impact on advancing human brain knowledge and overall care of human health.
To read the study’s complete findings, which have since been published in Science Advances, visit the link here.
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