Featured Researcher – Beth Kozel, MD, PhD

Genomic medicine is a revolutionary chapter within science, evolving at an exponential rate. At Nationwide Children’s, the Steve and Cindy Rasmussen Institute of Genomic Medicine brings the rapidly advancing science to the clinic to improve diagnosis, therapies and outcomes for children with gene-based conditions.

At the center of this research-to-clinic integration sits physician-scientist Beth Kozel, MD, PhD, chief of the Division of Genetics and Genomic Medicine, director of Constitutional Genomics Translational Research and a principal investigator in the Institute for Genomic Medicine. As a clinical geneticist, Dr. Kozel has dedicated most of her career to advancing genomics and incorporating it into clinical care in the truest sense of translational research — with “one foot in the clinical realm and one foot in research.”

Expanding her research on elastin, which she began with the National Institutes of Health, she aims to answer questions involving elastin-related rare diseases, including Williams Syndrome. Whether she’s mentoring, leading, researching or treating, Dr. Kozel’s mission is to develop therapeutics, apply novel concepts that impact rare disease management and foster the next generation of physician-scientists as they discover new frontiers in genomics.

How has your work evolved at Nationwide Children’s? 

Since arriving at Nationwide Children’s, we’ve been able to apply research concepts clinically that weren’t possible just a couple of years ago. Coming here has allowed me to collaborate with an incredible group of gene therapy experts at the Center for Gene Therapy and diagnostic experts at the Institute of Genomic Medicine and to focus on that critical space between diagnosis and therapeutics. I knew Nationwide Children’s would be a good match regarding where the research was heading and what we could do for patients around the world.

We had already laid the foundation for research and clinical work to identify Williams Syndrome; we just needed to move into an interventional therapeutic space next. Now, we can see a patient in the intensive care unit, order genomic testing, get results back in two days and use that information to create a personalized plan to guide their care. This was not a process we could perform at this scale two or three years ago. We’re now able to translate research into clinical care at a pace we simply couldn’t before.

What do you hope to accomplish in your research and professional development going forward? 

From the research perspective, we’re focused on the therapeutic aspects of elastic fiber disease. How do we take what we know about the fundamental biology of elastin fiber formation to put it to work to improve rare disease and chronic health conditions? We will continue to study the fundamental biology that underlies it, because that helps us optimize a therapeutic system better, but ultimately our goal is treatment for our patients. Regarding my broader clinical role as the chief of Genetics and Genomic Medicine, we have been redefining what genetics does and how we engage in clinical care.