Key points from article :
A new disorder - vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS) has been discovered.
Symptoms are blood clots, fevers, lung abnormalities and vacuoles in myeloid cells.
Caused by mutations in UBA1 gene.
Usually, researchers study several patients with similar diseases and then look for causative genes.
But here, they started with a list of genes first and tried to find genomic similarities among the various patients.
Genome sequences of 2,500 patients with undiagnosed inflammatory diseases were examined.
UBA1 gene involved in ubiquitylation( process regulating protein functions of the immune system) was found to be linked to life threatening VEXAS.
“using this genome-first approach, we have found a thread that ties together patients with seemingly unrelated, disparate diagnoses,” - Dr. Kastner.
Research by NIH published in NEJM.