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A Scleroderma Expert on Treating Autoimmune Disease

Dr. Francesco Boin, director of the Multispecialty Scleroderma Program and member of the Kao Autoimmunity Institute, on his vision for the future.

Director of the Scleroderma Program and member of the Kao Autoimmunity Institute, Dr. Francesco Boin.

Francesco Boin, MD is driven by the tangled intricacies of his work in scleroderma, a chronic autoimmune condition that can cause debilitating scarring of skin and internal organs. The multisystem disease is complex and difficult to study, says Dr. Boin, director of the Division of Rheumatology, director of the Multispecialty Scleroderma Program at the Kao Autoimmunity Institute, and the Cedars-Sinai Chair in Rheumatology. But faced with a lack of treatments and high patient mortality, Dr. Boin and his colleagues can make enormous progress through creative scholarship and lifelong bonds with patients.

"Our work is the epitome of internal medicine," Dr. Boin says. "This disease exalts the power of clinical observation—it requires a thorough and investigative clinical approach." 

Here, Dr. Boin shares his most pressing research questions, and how he and his team are poised to answer them. 

Why is it so important, at our clinical centers of excellence, to integrate patient care and autoimmunity research?

We do our best work by creating a clinical environment that allows us to learn about diseases directly from patients and immediately generate important research questions for the scientific team. The Kao Autoimmunity Institute is recruiting the most talented scientists to tackle difficult research questions and unravel the disease mechanisms underpinning rheumatic diseases. I’m humbled and excited by how our patients support our efforts: 99% participate in research. Having this kind of partnership with patients helps us define high-priority areas of research. 

In our model, people at the laboratory bench constantly interact with people at the bedside; there is mutual enrichment. This is what defines us and guides us as we recruit new leading medical scholars. The integration of research and care offers the greatest promise to deliver a cure for these diseases.

Which of your research questions are generated from directly observing patients?

In clinic, I’ve learned that every patient is unique. For example, not everyone with scleroderma will develop severe lung damage, but we don’t have good predictors of disease progression and outcomes. This motivated us to ask: How can we determine who is at risk for the most dire complications—what are the early hints that disease may be progressing? We identified a unique subset of immune cells that appear more frequently in patients who develop damage and loss of lung and heart function. Our U.S. Department of Defense-funded study, in collaboration with scientists at Harvard University, examines the characteristics of these cells and whether we can recognize them when the disease is still in its early stages.

We’re also trying to unravel the deeply intertwined relationship between a genetic predisposition for scleroderma and the body’s response to environmental cues like infection and pollution, so we can identify who is most vulnerable. 

How can we best improve the lives of patients with scleroderma?

We need to diagnose the disease early before the damage is irreparable, and design more personalized treatment plans respectful of each unique patient. This science is critical—often, we use medications that have a broad effect, with side effects that can be worse than the disease itself. It’s like trying to kill a fly with a cannonball. Wouldn’t it be better if it were more like laser tag—if we could direct the weapon only at the cells we know are responsible for the disease? 

And we need to address the burden of this chronic, incurable disease on patients’ quality of life. So many of the devastating implications are on a personal, social level. When you look in aggregate at the factors that determine how a person experiences their illness, physicians are an integral part of that journey. We must really listen to understand and address what is most challenging for the individual and their loved ones.