Dr. Maria Gutierrez-Arcelus: Decoding Diseases, One Cell at a Time

AS A CHILD, Maria Gutierrez-Arcelus, PhD, traveled with her family from their home in Mexico to Boston Children’s, where her little brother was diagnosed with a brain tumor. A clinical trial saved his life—and opened his sister’s eyes to the transformational power of research.

“A few years later, in high school, I learned that by studying DNA you could understand how diseases develop and that by editing genes you could cure diseases,” says Dr. Gutierrez-Arcelus. “That motivated me to go into genomics.”

She returned to Boston Children’s in 2021 as principal investigator of her own laboratory. There, scientists use advanced genetic sequencing and other state-of-the-art techniques to study gene regulation in autoimmune disorders like lupus.

In every patient with lupus, the body’s immune system attacks healthy tissue, yet people’s symptoms vary widely. This heterogeneity makes the disease hard to treat—especially childhood-onset lupus. Now, with funding from the Lupus Research Alliance, Dr. Gutierrez-Arcelus is investigating the biological processes that lead to this variability.

“We know certain B cells play an important role in the development of lupus. Our goal is to analyze how they respond to stimuli, how the responses vary between individuals and how genetic susceptibility to lupus affects B cell responses. These learnings could help us design personalized therapies,” says Dr. Gutierrez-Arcelus.

Another project on the horizon will study the pathogenesis of lupus in Latino and Black people.

“Lupus is more common in these populations compared to white people but, because they’re understudied, it’s unknown whether this is because of genetics, environmental factors or both,” says Dr. Gutierrez-Arcelus. “In collaboration with colleagues in Mexico and Houston, we’ll analyze samples from these patients, sequence their genomes and examine the external triggers that might influence their higher incidence of lupus.”

Central to this project will be the use of single cell sequencing, a new technology that allows researchers to analyze one cell at a time—a crucial step in identifying the subsets of cells involved in disease development. The revolutionary tool is available throughout Boston Children’s thanks to funding from the Manton Foundation for the Manton Cell Discovery Network (CDN). Dr. Gutierrez-Arcelus sits on its steering committee.

“With this technology, we can pinpoint the genetic factors that impact biological function—not just in lupus but in numerous conditions. My role in the CDN is to educate Boston Children’s investigators about these capabilities that will help us find answers for our patients.”