Seeking answers in the molecular maze of heart disease

Graduate student Katja Birker’s research doesn’t miss a beat
Katja Birker with molecular model

Growing up in the picturesque Canadian town of Kelowna, where she spent summers alternating between lakeside hikes and working in her parents’ restaurant and clothing stores, Katja Birker’s initial career path didn’t include research.

“I thought that I would become a surgeon. I’m fascinated by the human body, and I knew my mission in life was to help others, so it seemed like a natural fit,” she says. “But once I stepped foot in a lab, everything clicked. I liked that I could ask questions and find answers that had the power to help people in need.”

Today, Birker’s research, conducted under the guidance of Rolf Bodmer, Ph.D., director and professor in the Development, Aging and Regeneration Program at Sanford Burnham Prebys, could help some of the world’s most vulnerable patients.

Working with Mayo Clinic, Birker aims to identify genes and molecular pathways that may contribute to hypoplastic left heart syndrome (HLHS), a heart defect that affects roughly one out of every 4,000 babies in the U.S. Infants with HLHS must undergo multiple heart surgeries that start within the first two weeks of life.

“I absolutely love my project,” says Birker. “Motivation is never a problem.”

While her project focuses on HLHS, the work’s fundamental nature could also reveal how the heart develops. Using fruit flies, a surprisingly good model of the human heart, Birker removes candidate genes—identified through whole-genome sequencing of infants with HLHS at Mayo Clinic—and observes the effect on the organ’s development and function. Downstream changes can range from a missing heart to irregular heartbeats to an enlarged heart.

“Many congenital heart defects share the same molecular pathways,” says Birker. “Our hope is that our findings will apply to other, more common heart conditions, such as malfunctioning valves or holes in the heart chambers.”

Birker is delighted that she is able to pursue this important work in San Diego, a city she has long admired.

“San Diego is a biologist’s dream: There are incredible research institutions and thousands of biotech companies. Nearly every day multiple, fascinating scientific seminars take place at our Institute or nearby,” says Birker. “I tell people, ‘If you are a country singer, you head to Nashville. If you are a scientist, you go to San Diego.’”