April 8, 2026
Family First
A doctor flips the framework for diagnosing inflammatory and autoimmune genetic disorders.
TOPICS: Autoimmune | Chronic Disease | Research
Daniella Schwartz, who helped discover the condition HA20, is working to find new ways to treat it. (Portrait by Rayni Shiring, University of Pittsburgh)
Designs on Aging-Ready
By Strategic Communications
Johnnie Bell, a 46-year-old aerospace production supervisor who lives in Utah, was 30 when he was diagnosed with arthritis.
He later developed other symptoms that led to new diagnoses of atherosclerosis and lupus. At times, his flare-ups were so bad that he couldn’t crush an empty soda can. His cardiac symptoms worsened, too, and required surgery.
His wife, Christy Bell, says there were “so many days where he was bedridden. He seemed like he was 100 years old.”
Meanwhile, their youngest daughter, Miya, had experienced symptoms of her own since birth—unlike her father, whose symptoms mostly appeared later in life. Miya, now 10, had faced gastrointestinal symptoms, ulcers, skin rashes, joint pain, asthma and respiratory infections.
“I can’t tell you how many times I had to rush my husband or daughter to the ER in the last five years,” Christy Bell recalls. “No doctors had the right answer.”
That changed after a rheumatologist in Utah ran genetic tests showing Johnnie and Miya were positive for a rare autoinflammatory genetic disease called haploinsufficiency of A20 (HA20). She then connected the Bells with Daniella Schwartz, an assistant professor of medicine at Pitt who was part of the team that discovered HA20.
Schwartz arrived at Pitt in 2022 expecting to mainly work as a mouse immunologist, but she quickly found that her experience with rare genetic diseases put her in a unique position.
“After about six months, I started realizing that there were all these patients who didn’t have doctors who were familiar with what, to me, seemed like fairly straightforward aspects of their disease,” she says.
Schwartz serves as the codirector of the Pittsburgh Immunogenetics Discovery Center, a collaboration with UPMC Children’s Hospital of Pittsburgh. She’s determined to flip the framework for discovery and treatment of genetic autoimmune diseases.
“After about six months, I started realizing that there were all these patients who didn’t have doctors who were familiar with what, to me, seemed like fairly straightforward aspects of their disease.”
Daniella Schwartz, Assistant Professor of Medicine
“The way we had traditionally discovered them is we clumped together groups of people who look similar. And then we sequenced them to see what gene they have in common,” Schwartz says.
But for these diseases, symptoms can vary widely for the same condition; meanwhile, patients with different diseases can look similar. Clinical presentation, Schwartz believes, isn’t a reliable starting point. So her team takes a different approach.
“We try to target our treatment as much as possible to what we think is going on at a molecular level,” she says. “It’s not a biomarker within a disease. The biomarker is the disease.”
Johnnie Bell now receives daily shots of anakinra, which targets an inflammatory cytokine called IL-1, and monthly infusions of anifrolumab, a monoclonal antibody mainly used to treat lupus.
His energy has rebounded as symptoms have improved, restoring some normalcy to his life. Miya’s treatments have cut the frequency of her flare-ups to a fraction of what they were.
Schwartz is working to help as many people like the Bells as possible. Her research program is investigating several novel strategies to treat HA20, including a gene therapy that would target A20 directly.