When Christina Pacak, PhD, is hard at work in her lab at the University of Minnesota, she’s energized by a young girl on the other side of the globe.

Karolina Lavrič is a 5-year-old Slovenian girl living with Cockayne syndrome (CS)—a devastating, rare genetic disorder that causes premature aging and drastically shortens life expectancy. The average lifespan of children with CS is just 12 years.

Pacak, an associate professor in the Department of Neurology at the U of M Medical School, just so happens to be one of only a handful of researchers in the world who studies CS, which is how she met Karolina and her family.

“We meet by Zoom every few months to provide updates on our progress, and it’s always inspirational to see Karolina,” says Pacak. “Meeting patients helps to motivate me and my laboratory colleagues, as these contacts remind us that what we’re doing in the lab can help real patients.”

CS typically begins in childhood with symptoms such as impaired growth, cognitive dysfunction, and skeletal abnormalities. With no existing disease-altering treatments, families affected by CS face immense challenges.

Pacak and her team are pioneering a gene therapy approach aimed at providing a healthy version of the gene that causes CS. If successful, this therapy could reduce the disease severity and improve quality of life for kids who have CS. The work is currently in preclinical stages, and one of the next steps is to discuss clinical translation with the U.S. Food and Drug Association.

This ambitious project is funded in part by the Viljem Julijan Association, a Slovenian nonprofit dedicated to supporting children with rare diseases.

Nejc Jelen, PhD, the president of the association, first introduced Pacak to Karolina and her family.

While CS is rare—affecting an estimated one out of 250,000 babies—insights from this research could have far-reaching effects. Understanding CS may provide clues for treating more common aging-related conditions like dementia.

“It’s important to understand that the impact of studying rare diseases is broad and significant,” Pacak says. “CS is an accelerated aging disorder, and the disease mechanisms we’re learning about apply very easily to common disorders we see in our aged population.”