When you talk with Dr. Rob Hufnagel, it feels like you’re talking with one of the friendliest and most down-to-earth people you’ve ever met. You wouldn’t expect that he’s a world-class physician-scientist who’s spent 8 years researching rare genetic eye diseases and treating patients at the National Eye Institute, part of the National Institutes of Health (NIH).
But once you’ve met him, it’s not surprising to learn that Dr. Hufnagel grew up the son of a doctor who cared for his neighbors and was deeply connected to his rural community. Dr. Hufnagel had always wanted to be a physician. But in college, he learned about combined MD-PhD programs and realized, “This is a different way to help people. Research maybe doesn’t have the same short-term impact on people’s lives, but it has, perhaps, longer-term and larger-scale impacts.”
In his PhD genetics program, Dr. Hufnagel studied how genes impact the development of mice’s eyes. He learned that some of these genes are the same ones that are involved in human eye development. If these genes are abnormal, they can cause eye disease or blindness. This discovery is what started Dr. Hufnagel’s studies on human genetic eye diseases and his work at the National Eye Institute.
At the National Eye Institute, like at other NIH institutes, people with rare, undiagnosed diseases can receive new, cutting-edge care from physician-scientists who provide treatment that’s not yet available in local communities. Many of the children and adults Dr. Hufnagel and his colleagues treated were individuals with unknown causes of blindness. Physicians knew that for many of these people, some kind of genetic variant caused their blindness. If people were interested in participating, there were several gene therapy trials available. In these trials, retinal surgeons would inject a normal copy of the problematic gene into the patient’s eye. Then, the cells in the eye would accept this normal copy of the gene that could give the person the ability to see.
Dr. Hufnagel’s role in this process was to determine which genetic test would best assess if patients would benefit from the treatment. This would help to expand access to treatment for more people. Without the very specific genetic testing and analyses that Dr. Hufnagel and his colleagues were developing and refining, people wouldn’t know if they were eligible or if they could benefit from any of these cutting-edge genetic treatments.
While Dr. Hufnagel truly enjoyed working with colleagues and patients at the National Eye Institute, after 8 years he felt ready to be a community physician like his dad. He found a place where he could take care of patients, become part of the community, and remain part of scientific discovery and innovation: Kaiser Permanente Hawaii.
For those of us who’ve had experiences with cancer, either as patients or as caregivers for a family member or friend, we know that genetic testing is part of cancer treatment and prevention for certain types of cancers. Dr. Hufnagel is working with his colleagues to better understand how genetics and genetic testing can improve both cancer prevention and treatment. These scientists are also looking at the impact of genetic variants on other medical problems, such as when children are born with multiple medical problems. The KP Research Bank strongly supports the research that Dr. Hufnagel and his colleagues are conducting, which will help us better understand the impact of genetic variants on diseases and how they affect us.
Dr. Hufnagel also values working on genetics and health in Hawaii, since it has a such a diverse population compared to most of the United States. Since Hawaii’s population is approximately equal thirds Asian, European, and Pacific Islander, research that includes these communities will improve care and treatment for many people around the world.
Hawaii’s also been a great fit for Dr. Hufnagel and his family because it’s a place that has the type of connected community he grew up in and wanted to return to. He commented, “It really is satisfying to feel like part of the community here. You’re really part of this place. And the more you invest in Hawaii, the more you feel like you’re part of Hawaii.” So in addition to the full life Dr. Hufnagel shares with his wife, who’s also a medical geneticist, and their four kids, he has also become an outrigger canoe paddler, which he does both solo and as part of a 6-person team.
As a scientist, Dr. Hufnagel is looking forward to working with his Kaiser Permanente colleagues to develop the science of genetic medicine so that eventually, they’ll “be able to take all of this data and standardize it across our population to impact people’s health care right at point of care.” Such a system of care will allow all of us Kaiser Permanente members to have the most current, scientifically tested preventive care and treatment possible.
