Psoriatic arthritis – an aggressive and joint-destroying inflammatory disease – arises when the immune system mistakenly attacks the body’s own tissues. When the flawed immune response kicks into overdrive, rampant inflammation triggers crippling joint pain, stiffness and swelling. Not to mention that painful and persistent inflammation can damage the joints permanently. Finding genetic clues in psoriatic arthritis has proven difficult, but Cure Arthritis researcher, Lam “Alex” Tsoi, PhD, who is a research assistant professor at the University of Michigan, has started finding those elusive genetic clues.
Psoriatic arthritis is often preceded by psoriasis, which erupts as itchy, scaly patches on the skin. The same underlying inflammation that appears as red, flaky “plaques” on the skin can also damages the joints. Over time, if treatment is delayed, disease flare-ups progressively damage joints, cartilage and muscle tissue.
Up to 30 percent of psoriasis sufferers go on to develop psoriatic arthritis. “Our goal is to help clinicians develop ways to assess who will be more likely to develop psoriatic arthritis before symptoms appear,” says Dr. Tsoi, PhD. “Skin symptoms often develop first, and then joint pain follows. Once the joint pain occurs, it often signals that there has been significant joint damage.”
With grant funding from the Arthritis National Research Foundation and the National Psoriasis Foundation, Dr. Tsoi is studying how the faulty immune system spurs psoriatic arthritis. Since both genetic and environmental factors play a role in the onset of inflammatory disease, the challenge is to develop an accurate predictive model.
Drawing on the enormous power of data-driven approaches, also called bioinformatics, Dr. Tsoi is exploring molecular mechanisms and susceptibility genes that promote inflammatory diseases. Scientists are studying why inflammation – marked by redness, heat, swelling and pain – leads to psoriatic arthritis in only about a third of people with psoriasis.
“We’re looking for genetic markers that could help us predict psoriatic arthritis before it occurs,” says Dr. Tsoi. Dr. Tsoi’s background in statistical genetics and computational biology has proven helpful when combing through millions of biomarker data sets looking for genetic clues in psoriatic arthritis.
“My research focuses on developing novel computational biology to advance research in both psoriasis and psoriatic arthritis. My goal is to improve both research and patient care through the development of a robust pipeline for analyzing biomedical data.”
More than a decade ago, the sequencing of the human genome offered researchers a window into the molecular genetics of every individual on the planet. Now, researchers are unscrambling the genetic mechanisms that trigger devastating inflammatory diseases. “Our understanding of the genetic drivers of disease continues to make real progress,” says Dr. Tsoi. “As more data is generated, it increases our predictive capability.”
By leveraging proprietary software analysis tools, big data and machine learning technologies, Dr. Tsoi is developing techniques to tailor personalized approaches to medicine.
“We are working to identify specific genetic signatures that will allow us to predict who will or will not develop psoriatic arthritis,” he explains. “Symptoms of psoriatic arthritis can change over time, getting better or worse without warning. Pain is often only in a joint on one side of your body and not in the same joint on the other side of your body. Risk assessments would help clinicians offer personalized management to patients at a higher risk for developing the disease.”
Bioinformatics offers a way to anticipate who will develop psoriatic arthritis, so clinicians can follow up before symptoms appear. Most patients get an annual check up, but high-risk individuals could be followed more closely.
“The prevalence of psoriatic arthritis is fairly low in the general population, so it’s not practical to screen everyone,” explains Dr. Tsoi. “Any delay in diagnosis is harmful. If we could identify the genetic clues in psoriatic arthritis for those who are at risk, clinicians could screen more often and be alert to symptoms that indicate that someone is developing the disease.”