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Researchers discover new inflammatory syndrome that affects men - Here are the symptoms you should know - Times Now

Researchers discover new inflammatory syndrome that affects men - Here are the symptoms you should know - Times Now

Researchers discover new inflammatory syndrome that affects men - Here are the symptoms you should know - Times Now
Oct 29, 2020 44 secs

Since inflammatory disorders can be difficult to diagnose and differentiate between, researchers at the National Human Genome Research Institute (NHGRI), part of the NIH and collaborators from other NIH institutes took a unique approach to understand them.

In the process, they identified UBA1, which is a gene linked to an inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome (VEXAS).

Still, each of the three males appeared to have two copies of the UBA1 gene with one copy harboring the mutation, which was not unexpected because humans usually have two copies of every gene.

They then discovered that mutations in this gene could lead to a rare, and deadly inflammatory disorder, affecting only men, and called the VEXAS syndrome. .

Dr David Beck, a clinical fellow at the National Human Genome Research Institute, said, “Instead of starting with symptoms, start with a list of genes.

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