National Institutes of Health (NIH) researchers reported a deadly inflammatory disorder that was discovered last week.
“We have many patients with undiagnosed inflammatory conditions coming to NIH Clinical Center, and we cannot diagnose them,” said Dr. David Beck, a clinical fellow at NHGRI and partner the main fake of the article, said in a newsletter. . “That’s when we got the idea of doing the opposite. Instead of starting with symptoms, let’s start with a list of genes. Then let’s study the genomes of the undiagnosed individuals and see where it takes us. ”
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The team tested more than 2,500 people with undiagnosed inflammatory diseases and evaluated more than 800 genes involved in cell regulation, according to the release.
In doing this, they found a mutant gene, UB1, that causes a syndrome called VEXAS for “vacuole, E1 enzyme, X binding, auto-inflammatory and somatic syndrome.”
“So far, 40% of VEXAS patients whose team has died, showing dire consequences of a serious condition,” according to the statement. The disease involves blood clotting, repeated fever, heart problems and problems with blood cells, called myeloid cells.
The results were published in the New England Journal of Medicine.
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“Our goal is to see if any of the 2,560 patients share variants in the same gene,” said Dr. Daniel Kastner, scientific director of the Internal Research Program at NHGRI and author. high-level article, said in a press release. “Instead of looking at clinical similarities, we instead take advantage of shared genomic similarities to be able to help us detect a whole new disease.”
Out of 2,560 patients, researchers said 1,000 had repeated fevers and widespread inflammation. Three men had a genetic mutation in the X chromosome; males have one X and one Y chromosome, while females have two X chromosomes.
Researchers have discovered “mosaic disease” in affected patients, which occurs when some cells carry the gene in a mutated form and others carry the gene in its normal form, according to the release. Finally, a total of 25 men on other NIH databases showed mutant genes with similar symptoms: blood clotting, repetitive fever and heart problems, among others. .
“Using this first genome approach, we have found a string that unites patients with all these seemingly unrelated diagnoses,” Kastner concludes.
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