VEXAS Syndrome: Scientists Discover This Rare and Deadly Genetic Disease in Men

According to Dr David Beck, a clinical fellow at the National Human Genome Research Institute and lead author of the new report, they had many patients with undiagnosed inflammatory conditions who were visiting the NIH Clinical Center and the doctors were just unable to diagnose them. That’s when the team had an idea that “instead of starting with symptoms first, they started with a list of genes. Then, study the genomes of undiagnosed individuals and see where it takes us,” he added.

In a notification on Tuesday, the New England Journal of Medicine, revealed that the disease has already killed 40 percent of known patients who suffer from symptoms of the newly discovered genetic disease. However, their discovery is hailed by medical and scientific professionals as it may lead to effective therapies for the disease.