Health
Scientists Discover This Rare and Deadly Genetic Disease in Men
Scientists at the National Institutes of Health (NIH) have rarely affected men called vacuoles, E1 enzymes, X-linkage, autoinflammatory and somatic syndrome (VEXAS) syndrome caused by mutations in the UBA1 gene. I found a fatal genetic disease.
Researchers believe that VEXAS was found in men because it is associated with the X chromosome, which has only one man. On the other hand, they hypothesize that the additional X chromosome in the woman may be a protective factor in this case.
VEXAS causes symptoms such as intravenous blood clots, cartilage inflammation, lung system abnormalities, recurrent fever, lung abnormalities, and bone marrow cell vacuoles (abnormal cavity-like structure). New England Journal of Medicine..
Researchers at the National Institutes of Health have discovered a new illness by flipping the methodology. Instead of grouping people with similar symptoms and analyzing the genome for biological explanation, they search the NIH database for the genetic makeup of about 2,500 patients and are associated with undiagnosed diseases. I searched for variations that could be done.
According to Dr. David Beck National Human Genome Institute As the lead authors of the new report, many patients with undiagnosed inflammatory conditions were visiting the NIH Clinical Center and doctors were unable to diagnose them. At that time, the team had the idea that “we started with a list of genes, not with symptoms first.” Then study the genome of an undiagnosed individual and see where it takes us, “he added.
In the notification on Tuesday, New England Journal of MedicineRevealed that the disease has already killed 40 percent of known patients suffering from the symptoms of a newly discovered genetic disease. However, their findings are welcomed by medical and scientific experts as they can lead to effective treatments for the disease.
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