Rehoboth. It has been a while since I posted my annual post-beach-vacation thoughts about how my experiences at the shore made me think about science. I initially started these posts after a vacation in Marielyst, Denmark when I realized that my sandcastle building skills were not appreciated as much as I thought. This reminded me that similar things happen with our scientific achievements. Here is what the beach told me about science in 2025, twelve years after I started to compare academic endeavors with alluvial relaxation.
Figure 1. Dunes at Rehoboth Beach, Delaware. A stretch near the beach, looking at the beach from the boardwalk facing away from the crowds. Much like rare disease research, some of the most valuable insights happen off the expected path when looking in a different direction. This can often happens in spaces that are less visible.
Beach reads. Each summer, we try to step away for a week at the Delaware beach. I try to leave my inbox behind (mostly), pack a few unread books, and tell myself that this time, I’ll truly unwind. But, like many of you, I can’t fully turn off the part of my brain that looks for patterns—even on vacation. This year, three unexpected moments during our beach trip made me reflect on how we approach rare disease research. None of them happened on the beach.
1 – Conquering the end of the world. One afternoon, I set out on a quick bike ride. I thought I knew where I was going, a familiar loop through town, maybe twenty minutes. But halfway through, I was found myself at spot in the middle of cornfields that I had previously referred to as “the end of the world”. I knew there was a bike trail starting from there, but it seemed long and arduous. I followed it anyway. What unfolded was a winding trail through the dunes at Cape Henlopen and quiet stretches of marshland at Gordon Pond that felt like the edge of the world; the quiet hinterland of the busy Delaware beaches. Two and a half hours later, I returned smiling.
We often think we know the map in rare disease research. The named syndromes, the diagnostic criteria, the ACMG classifications—they feel like signposts. But sometimes, the most meaningful advances come from following a trail we didn’t know existed. A variant in a gene that wasn’t on anyone’s list. A phenotype that doesn’t fit the pattern. A patient whose story forces us to redraw the boundary of a disorder. These detours can feel disorienting, but they often bring us closest to discovery.
2 – Timing is not what you think it is. This year, we planned our beach trip earlier than usual in the summer. We thought we were ahead of the curve and that this was a good idea. But when we arrived, the boardwalk was packed. The restaurants had waitlists. The beach itself was overrun. It felt like we had hurried up just to find ourselves standing still.
In research, we often rush to be first—first to analyze the data, first to submit the manuscript, first to announce a finding. But science doesn’t always reward urgency. Sometimes, the best work comes from slowing down, looking at a dataset again, recontacting a family, pausing to ask the question no one thought to ask. Being early does not always mean being better in science. And moving fast isn’t the same as moving well.
Beyond the beach. We spent surprisingly little time on the beach itself. For me, the highlight of this vacation turned out to be the lazy river at a nearby water park, a slow-moving current that looped endlessly under fake palm trees and plastic bridges. For almost a decade, I had looked at the signs to this waterpark with some degree of skepticism or disregard. Why have a waterpark close to the beach? But it was the moment when I felt most relaxed and most present.
This made me wonder where the real value lies in rare disease research. We often focus on the “beach”—the gene discovery, the diagnostic yield, the number of publications. But the most impactful parts of our work are often the ones we did not plan: the long-term follow-up with a single family, the patient registry that took five years to build, the unassuming dataset that quietly reshapes how we see a disorder. The lazy river is slow. It doesn’t take you somewhere new. But it may change how you see what’s around you.
The quiet metaphors. This summer gave me three new metaphors. A hidden bike trail, a crowded early arrival, and a lazy river. None of them seemed significant at the time. But together, they reminded me why rare disease research needs more than good science. It needs patience, curiosity, and the humility to be surprised. We think we’re heading to the beach. But sometimes, the path that matters most is the one we didn’t know to follow.
