Ever since I was a little kid, I’ve been fascinated by genetics. The idea that tiny pieces of information inside our cells help not only shape who we are but can also cause chaos with even one small change has always been incredible to me. This awe and appreciation led me to a Genetics PhD program and, more importantly, a deep belief in the power of genetic information to improve lives. On April 25, we celebrate DNA Day and remember that genetics is most powerful when it leads to understanding, action, and progress for people and families.
DNA Day marks the anniversary of two pivotal events that fundamentally changed the field of genetics. In 1953, the structure of DNA was published, giving us the first look at the now well-known double helix. Fifty years later, the Human Genome Project, a global collaboration aimed at mapping the genes that make us human, was completed. Together, these events represent an incredible span of progress, from visualizing DNA to reading all the instructions it was meant to contain, all within the span of a lifetime.
As exciting as these achievements were for scientists, genetics is about more than scientific breakthroughs. It’s about what those discoveries mean for people. Genetic information can identify a diagnosis, shape care practices, connect families, and guide research. At the same time, I’ve also seen how genetic results can raise more questions. A test result may explain why a condition happened, but it doesn’t always provide a clear sense of what comes next, like how the condition may change over time, how treatments might work, or what daily life might look like.
This uncertainty is especially familiar in the HI community. While some individuals with HI have an identified genetic cause, others do not yet have a known genetic diagnosis. For families, this can be frustrating, and this means there’s still more to learn and discover. For example, when two people have the same genetic change, their experiences may look very different. These differences matter, and they remind us that even the most advanced DNA technology cannot fully explain the human experience. This is why pairing genetic information with lived experience is so critical. Genetic research moves forward faster when data is placed in the context of symptoms, treatments, outcomes, and everyday life. When those pieces come together, a genetic change becomes more than a string of letters.
This is why the HI Global Registry (HIGR) plays such an important role in advancing research. When people share genetic reports, diagnostic information, and updates about their health, researchers gain a much clearer picture of what HI looks like across the community. Each data point helps identify patterns, ask better questions, and design better ways to diagnose and treat HI in the future.
Today, in honor of DNA Day, we encourage you to take a small but meaningful step. Consider joining HIGR or logging back in, uploading a genetic report if you have one, completing or updating the Diagnosis survey, or completing another survey to share how you or your child is doing today. Progress in genetics happens one shared experience at a time. The future of genetics isn’t defined only by what we can sequence from a sample. It’s defined by what we learn when those sequences are connected to real lives. DNA Day is a celebration of how far we’ve come, but more importantly, it’s a reminder that there’s more work to be done together.
