This was the first time the research scientists used genome sequencing as an approach to diagnosing an unknown illness. They normally discover previously unknown disease by studying patients with similar symptoms, then find the gene or multiple genes that may be causing the disease. Their usual approach was not working.
“We had many patients with undiagnosed inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose them,” said David B. Beck, M.D., Ph.D., a clinical fellow at NHGRI. and lead author of the paper.
On the other hand, Dr. Beck, the lead author of the study explained, “That’s when we had the idea of doing it the opposite way. Instead of starting with symptoms, start with a list of genes. Then, study the genomes of undiagnosed individuals and see where it takes us.”
VEXAS explained
Every person has a complete set of DNA called its genome. And each cell in the body contains a complete copy of the approximately 3 billion DNA base pairs, or letters, that make up the human genome.
