Seeing the progress of research in the eyes of a child

Holding a family’s fragile, premature newborn is a humbling moment — especially as a newly minted doctor.

That was me 20 years ago. I’m a pediatric ophthalmologist, and I’m called in to help when premature babies have an eye disease called retinopathy of prematurity (ROP). It’s the condition that blinded Stevie Wonder, and when I began practicing, I cared for some babies who lost vision from ROP despite my best efforts.

As a new doctor in 2001, I saw another young baby because his parents felt he wasn’t able to look at toys. After many tests, I diagnosed an inherited disease called Leber congenital amaurosis (LCA) and needed to tell his parents that we couldn’t fix their baby’s vision and he would eventually go blind.

It was terrible to deliver this news. As a physician, it’s extremely difficult to know that there are limits to what we can do, particularly for young infants with blinding diseases. Eyesight is how we experience the world. Most of us remember a trip to the Grand Canyon, from how it made us feel to stand and look at its vastness. We remember those butterflies after seeing our life partners for the first time. Seeing is so entwined with living that it has a special place in our lexicon: We say we have a vision for the future, a picture of a happy family, a snapshot of a moment in time.

One of the things that drew me to vision research was this important place vision has in our lives. Another was the amazing attributes of the eye as a model for biomedical science. The eye is accessible for study, diagnosis and treatment. It’s also a window into the brain. The light-sensing retina at the back of the eye is actually part of the brain; in fact, much of what we know about the brain has come from studying the neurons that make up the retina.

Careful study of the visual system has given us a new understanding of how the system works at the level of the genes, proteins, cells and circuits that make vision possible. With that understanding has come new treatments for eye diseases and the ability to halt vision loss, as well as new technologies to compensate for visual impairment.

So now I have the benefit of practicing after 20 years of vision research, and the landscape is completely different. Research has taught us how to better diagnose ROP using telemedicine in hospitals that don’t have a pediatric ophthalmologist on hand. It’s given us new and more effective ways to treat ROP using laser and drug therapies. Now, I routinely take care of premature babies who would have lost vision in 2001 — but will grow up being able to see well.

And today, when I hold a baby with the most common form of LCA, I can tell the family that there is a treatment. Through a commitment to long-term research, scientists found a way to treat this inherited disease by using gene therapy to replace a defective gene — delivering a normal copy of the gene directly to retinal cells. This treatment, injected into the eye, was the first directly administered gene therapy approved by the FDA. In LCA, and in other diseases, it has taken decades of research to understand the disease mechanism, to test strategies for thwarting it, and to show that new treatments are safe and effective.

This speaks to the importance of sustained public investment in research, in which the government commits to long-term exploration of a problem. Supporting years of basic research represents a risk that private companies are generally unwilling to take. It takes the public and private sectors working together for the progress of science to deliver new treatments and cures.

Today, the COVID-19 pandemic has put biomedical research and public health at the center of a national discussion about the need to be better prepared to take on diseases that threaten our lives and quality of life. We have also come face-to-face with health disparities that are leaving some people out of the benefits that medical breakthroughs bring.

To support a healthy and equitable future requires rigorous and unbiased research that the government is well-positioned to do. We owe the people of our country nothing less.