Kathleen E. Sullivan, MD, PhD

Early in her career, Kathleen Sullivan, MD PhD, decided to work in a field where new technology could have a major impact on the lives of patients.

“I was interested in understanding how children could be treated to prevent infection and identifying better ways to treat people with unusual infections or unusual manifestations of infections,” Dr. Sullivan says. That led her to a distinguished career in immunology.

Dr. Sullivan has written or co-written over 200 publications in medical books and journals, and in 2017, the Immune Deficiency Foundation recognized her work with its Boyle Scientific Award, the highest honor in the field of primary immune deficiency.

With a PhD in immunology and biochemistry as well as an MD, Dr. Sullivan has an active research program. In the lab, she investigates the biochemical origins of immunodeficiency and autoimmune disease; in the clinic, she discovers ways to translate new findings into treatments for patients.

Of her laboratory research, Dr. Sullivan says, “I work on how DNA gets folded. This sounds obscure, but it turns out that the folding of the DNA changes how genes are expressed, and the folding is dictated in some cases by our diet, pollution, and previous infections. Conceptually, it is a way to bring together our environment and our genes to understand disease.”

“I also study several immune deficiencies as a clinician,” Dr. Sullivan notes. “I have had a long interest in Wiskott Aldrich syndrome, chronic granulomatous diseases, common variable immune deficiency and chromosome 22q11.2 deletion.”

Primary immunodeficiency diseases include more than 400 rare, chronic disorders that can have a bewildering variety of symptoms and are often very difficult to diagnose. This diversity means that Dr. Sullivan works with many multidisciplinary teams at CHOP; it also requires diligent and individualized care for every patient.

“Each patient is a partner with me to get their best life experiences and health,” says Dr. Sullivan. “Each patient has their own story and the treatments likewise need to fit their goals.”

As a leader in her field, Dr. Sullivan has served in several professional societies in roles that give her a broad view of the state of immunology and its overall role in health.

“I serve on a committee where we track the evolution of immunologodeficiencies since the 1970s,” Dr. Sullivan says. “The growth has been almost unbelievable and many people believe that immunology is the fastest-growing specialty. Much of the growth has been in understanding the genetics and matching treatments to the genetic etiologies.  I now am the director of the Undiagnosed Disease Network here at CHOP and hope to bring the type of innovation that helped people living with immunologic issues to other kids and adults.”

“For many years, I have worked on immunology on a very individual level, treating patients and personalizing the care for each patient,” Dr. Sullivan reflects. “I have now started to conceptualize population scale effects of the immune system. I like thinking about the immune system on that very personal level and also thinking about ways to improve health in a much broader way.”