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Susan Reslewic Keatley

Susan Reslewic Keatley

Writer. Author. Scientist. Curious Conversationalist.

Why Don’t Disease-Linked Genetic Mutations Always Result in Disease? A Study in Fruit Flies Offers New Clues

March 13, 2023

By harnessing both experimental and computational methods, researchers have identified a significant role for randomness in disease manifestation.

A genetic disorder may affect one person differently from another, even if they both have the same mutation. This anomaly has long been attributed to the varying effects of environmental or other competing genetic factors. But now a new study from researchers at the Flatiron Institute and Princeton University has revealed how a third factor — randomness — can also impact disease development. This study in flies may help explain why there is so much variability among people with the same genetic mutation, especially in neuropsychiatric conditions such as autism and schizophrenia. The research team reports their findings in the March 13 issue of Current Biology.

“The question of what is sufficient for disease occurrence, in addition to a mutation, is fundamental,” says Stanislav Shvartsman, head of the Developmental Dynamics group in the Flatiron Institute’s Center for Computational Biology, and professor of molecular biology at Princeton. “We designed an experiment to rule out the effects of genetic and environmental factors on disease, and to our surprise, we saw the significant role played by randomness,” he says.

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