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Genetics is – surprise! – complicated. And it’s even more complicated than doctors and lab tests can currently account for.
Typically, genes are thought to cause a single condition or trait. If you have the gene for, say, sickle cell anemia, you are very likely to develop that disease. But while this is true for some cases, most traits manifest through interactions between the millions of genetic variants scattered throughout your genome – and how they interact with each other significantly influences how a disease develops, if at all.
“That’s why two people with the same genetic mutation can seem so different,” writes molecular biologist Santhosh Girirajan of Penn Sate University. “One person might have severe symptoms, another person mild symptoms, and another none at all.”
In newly published research, Girirajan and his team found that a genetic mutation linked to neurodevelopmental and psychiatric conditions such as autism and schizophrenia can lead to a variety of different symptoms, depending on which genetic variants are present. He points to these findings as another example of how expanding the way researchers and clinicians approach genetics could lead to more precise and effective care.
“By embracing this complexity, I believe genetics can move closer to its ultimate promise: not just explaining why disease happens, but predicting who is most at risk and personalizing care for each individual,” Girirajan writes.
Also in this week’s science news:
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