Daniel Kastner's work defined a new category of illnesses—known as autoinflammatory diseases—and has opened the door for life-changing and even lifesaving treatments for the conditions. ScienceMagArchives
The bizarre symptoms had tormented Sarkis Hagopian since he was a young child crawling around his Pittsburgh home. Every so often, one of his knees would balloon or an ankle would swell so much that he couldn’t put on his shoe. Fierce cramps would wrench his abdomen, leaving him unable to stand up straight. “I was pitched at a 45° angle,” recalls the now-60-year-old printing salesman.
The meeting was a watershed for both. Hagopian finally learned he suffered from a rare genetic illness, familial Mediterranean fever , and started to take the first treatment that salved his symptoms, the drugs colchicine and naproxen. Autoinflammatory diseases may also yield insight into the organization of the immune system by revealing “chokepoints,” or weak links that can fail and lead to illness, suggests Kastner, who rose through NIH’s ranks to become scientific director of the National Human Genome Research Institute in 2010. In addition, the maladies could shed light on some common illnesses, such as Crohn disease, gout, and Alzheimer’s disease, that show autoinflammatory characteristics.
FMF clearly ran in families, particularly ones with Mediterranean or Middle Eastern backgrounds. An ambitious plan germinated in Kastner’s mind. Francis Collins, the geneticist who now heads NIH, and other researchers were laboriously homing in on the gene that is defective in cystic fibrosis by using a technique called positional cloning. The approach involves identifying markers near the target gene by analyzing affected families.
The placentas, meanwhile, were meant to address a shortcoming of the probes: They were embedded in larger pieces of DNA that tended to stick to irrelevant “decoy” sequences scattered around the genome. Other researchers had found that DNA from placental tissue would glom onto those decoys and allow the probes to home in on their intended chromosome locations.
By June 1997, the researchers had winnowed the candidates to 10 genes near one tip of chromosome 16. Once they cleared several final hurdles, including a crucial mix-up over whether one of the Israeli subjects had the disease, the scientists nabbed the causative gene. Called, it encoded a novel protein of unknown function that they named pyrin, from the ancient Greek word for fire or heat. In a near-tie, a team of French researchers identified the same gene at almost the same time.
The novelty of VEXAS syndrome, as Kastner and colleagues called it in their 2020 report, was that patients had acquired their disease-causing mutations during their lives, in much the same way that sporadic cancer results from new mutations. Because the gene is on the X chromosome, men only have one working copy, so they have a much greater chance of developing VEXAS.
Pharmaceutical companies have developed several drugs, such as anakinra and canakinumab, to block those proinflammatory molecules. Those medications have become standard therapies for autoinflammatory diseases.
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