Transposons Identified as Likely Cause of Undiagnosed Diseases

A tool for identifying jumping gene insertions in DNA sequencing data turns up possible explanations for four patients’ rare developmental disorders.

Written byJef Akst

| 4 min read

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When Wellcome Sanger Institute geneticist Eugene Gardner set out to look for a specific type of genetic mutation in a massive database of human DNA, he figured it’d be a long shot. Transposons—also known as jumping genes because they can move around the genome—create a new mutation in one of every 15 to 40 human births, but that’s across the entire 3 billion base pairs of nuclear DNA that each cell carries. The sequencing data that Gardner was working with covered less than two percent of that, with only the protein-coding regions, or exons, included. Doing a quick calculation, he determined that, in the best-case scenario, he could expect to find up to 10 transposon-generated variants linked to a developmental disease. And “we really might get zero,” he says. “This whole thing might be for naught.”

But Gardner had recently developed the perfect tool to find ...

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Meet the Author

Jef Akst
Jef (an unusual nickname for Jennifer) got her master’s degree from Indiana University in April 2009 studying the mating behavior of seahorses. After four years of diving off the Gulf Coast of Tampa and performing behavioral experiments at the Tennessee Aquarium in Chattanooga, she left research to pursue a career in science writing. As The Scientist's managing editor, Jef edited features and oversaw the production of the TS Digest and quarterly print magazine. In 2022, her feature on uterus transplantation earned first place in the trade category of the Awards for Excellence in Health Care Journalism. She is a member of the National Association of Science Writers.
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