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As a medical student at George Washington University in Washington, DC, Scott Canna took advantage of an opportunity to spend a year at the National Institutes of Health (NIH) in Bethesda, MD, learning to be a clinical researcher.
“A mentor told me that some people at NIH were doing amazing things in a fairly new field called autoinflammation,” he recalls. “He said he thought I’d really like it, and he was right.”
By the end of his year at NIH, Dr. Canna knew he wanted to devote his career to better understanding autoinflammation and using that knowledge to help children with autoinflammatory diseases.
Dr. Canna joined Children’s Hospital of Pittsburgh in November 2016 as a pediatric rheumatologist, assistant professor of pediatric rheumatology at the University of Pittsburgh School of Medicine, and assistant professor of immunology at the University of Pittsburgh. As an expert on autoinflammatory diseases, he is also affiliated with Children’s Center for Rare Disease Therapy.
What’s an autoinflammatory disease? To answer that question, a quick primer on the immune system may be helpful: Simply put, it’s the body’s defense system against infection and injury. It’s a complex system with two basic parts that work closely together: the innate immune system, which is the body's first line of defense––think of it as the troops that mobilize immediately when a threat is detected––and the adaptive immune system, which provides specially trained reinforcements that take a few days to mobilize but can scale up massively, target invaders precisely, and remember those invaders in the event of a future attack.
When the immune system goes to work, it causes inflammation, the four basic symptoms of which are pain, redness, heat, and swelling. In the presence of infection or injury, these are signs that the body is defending itself. When the infection or injury has healed, the symptoms of inflammation generally go away.
Sometimes, however, when there’s a mistake somewhere in the immune system, the symptoms of inflammation don’t go away. This can result in frequent fevers, rashes, eye infections, nausea and vomiting, headaches, joint pain, and ultimately organ damage. When the mistake is in the innate immune system––and the inflammation isn’t due to an infection or any other undiagnosed illness––that’s an autoinflammatory disease. Often the cause of the mistake is a faulty gene.
“In patients with autoinflammatory diseases, something has gone awry in the innate immune system that causes inflammation to spiral out of control,” explains Dr. Canna. Although the symptoms often resemble those of an infectious illness, autoinflammatory diseases are not contagious, he emphasizes. “The symptoms of an autoinflammatory disease are not caused by an infection but by a regulatory problem in the innate immune system.”
Since research on autoinflammatory diseases began in the late 1990s, dozens of rare autoinflammatory diseases have been identified. During his time at NIH in 2005, Dr. Canna made a major contribution to this still-emerging field when he played a role in uncovering the genetic cause of a potentially life-threatening autoinflammatory disease called macrophage activation syndrome or MAS.
After graduating from medical school in 2006, Dr. Canna did his internship and residency at Colorado Children’s Hospital in Denver, completed a fellowship in pediatric rheumatology at Children’s Hospital of Philadelphia, and followed that with a three-year postdoctoral fellowship at NIH. He is board certified by the American Board of Pediatrics in general pediatrics and pediatric rheumatology. He has published numerous papers in prestigious journals including the New England Journal of Medicine and Nature Genetics.
At Children’s Rangos Research Center, Dr. Canna directs a lab dedicated to understanding the underlying causes of autoinflammatory diseases. “Our goal is to discover as much as we can about the underlying mechanisms of these diseases and use what we learn to improve diagnosis and treatment for patients,” he says.
He continues to collaborate with a team of autoinflammatory-disease researchers at NIH. Their work has already led not only to new knowledge about how the immune system goes awry in these disorders but also to new treatments for some autoinflammatory conditions, including drugs that can successfully treat certain autoinflammatory diseases by blocking interleukin-1, a substance in the immune system that regulates inflammation.
“This is an enormously challenging field to work in because every patient and every disease is different,” says Dr. Canna. “But when we can apply a treatment that resolves what had been chronic, life-threatening symptoms––when we see the difference that makes for patients and their families––it’s very rewarding.”
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