- Scientists have discovered a fatal genetic disease through reverse research: it starts with genes, not symptoms.
- This disease is called VEXAS after its main features. It is an inflammatory disease that easily causes symptoms including blood clots, fever and even 40% of death.
- This discovery is praised by medical and scientific professionals for its ability to pave the way for future discoveries, treatments, etc.
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In the United States, if not more, there may be hundreds of men with genetic diseases, which can cause symptoms, including venous thrombosis, repeated fever, abnormal lung system, and death of -40% of patients.
Researchers from the National Institutes of Health in the United States discovered a disease called VEXAS through a reverse study: instead of grouping people with similar symptoms and looking for a biological explanation, they searched the genetic makeup of 2500 people. Look for inflammatory symptoms that may not be diagnosed with a wide range of variants.
Dr. David Baker, NHGRI clinical researcher and lead author of the paper, said: “We have many patients with undiagnosable inflammation that come to the National Institutes of Health Clinical Center. We just can’t diagnose them.” Tuesday in New England. A statement was published in the Medical Journal.
“At that time, our thinking was the opposite. Instead of starting with symptoms, we should start with a gene list. Then, study the genomes of undiagnosed individuals to see where it will take us.”
Using this method, the scientists finally identified three middle-aged men who all had the same mutation in a gene called UBA1. They later discovered 22 other men with the same mutation and similar symptoms, such as blood clots and fever.
The research team named it VEXAS disease. Its main characteristics are: vacuoles (abnormal cavity-like structures in certain cells), E1 enzyme (associated with UBA1), X-chain connection (according to the chromosome to which it is connected), auto-inflammation ( That is, the immune system accidentally attacks the body) and the body (because this condition seems to occur suddenly during the life of the patient rather than at birth).
Researchers suspect that VEXAS is only found in men because it is related to the X chromosome, and men only have the X chromosome. They hypothesized that women’s extra X chromosomes might be protective in this situation.
Since the publication of the paper, more than 25 patients with the syndrome have been found, but according to NBC News, the study authors expect the true prevalence of the disease to be much higher because there are nearly 125 million people in the United States Suffer from some form of chronic inflammatory disease.
Researchers who were not involved in the study, Dr. Ephrat Levy-Lahad and Mary-Claire King, wrote in an accompanying editorial: “This fascinating discovery is immediately important to rheumatologists and has extensive The clinical significance of this.”.
For scientists, the revelation that the “genome first” strategy works may help determine other previously undiscovered genetic conditions.
Researchers hope that for healthcare professionals, these findings will help diagnose and treat patients with inflammatory diseases, and may improve the classification system for these diseases.
For patients who have been struggling with mysterious symptoms and seeking effective treatment to no avail, this discovery has also changed the rules of the game.
Dr. Natalie Azar, Clinical Assistant Professor of Medicine and Rheumatology at NYU Langone, told NBC: “We don’t always make a diagnosis, so we said,’Well, let’s throw the kitchen sink to the patient.” Potential treatment offline has opened up a vast world.”