Scientists are figuring out which of the 5,000 variants associated with schizophrenia have an actual causal effect in the development of the condition that affects millions of people worldwide.
Genetically speaking, we are individuals different from each other because of slight variations in our DNA sequences -- so-called genetic variants -- some of which have dramatic effects we can see and comprehend, from the color of our eyes to our risk for developing schizophrenia -- a debilitating psychiatric condition affecting many millions worldwide.
"Our findings not only provide insights into the intricate regulatory landscape of genes, but also propose a groundbreaking approach to decoding the cumulative effect of genetic variants on gene regulation in individuals with schizophrenia," said senior author Hyejung Won, Ph.D., associate professor of genetics at the UNC School of Medicine."This comprehension could potentially pave a path for more precise interventions and therapies in the future.
To tackle this problem, the researchers used a special technique called a massively parallel reporter assay -- essentially a genetic sequencing technique that can parse which variants trigger gene expression and which ones don't. To use this method, the researchers introduced the 5,000 variants into human brain cells in a dish, cells that are essential for early brain development. These variants may or may not cause the expression of their downstream gene and genetic barcode.
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