VEXAS syndrome was only discovered in 2020. And it may affect way more people than we thought.
, Beck and his colleagues scanned genetic sequencing readings from more than 160,000 people to determine how common VEXAS syndrome really is, and how its symptoms manifest in patients. The research team found that nine male patients and two female patients in their study had mutations that caused VEXAS.
“It’s thrilling to go from trying to understand a few patients to finding that the same genetic cause and the same disease is found in tens of thousands of individuals,” Beck said.
This type of research, Beck emphasized, has been made possible by recent advances in genetic sequencing that make it readily available and affordable to patients. The participants in the study all sought care at a Geisinger health care facility in central and northeastern Pennsylvania between 1996 and 2022. As part of a
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