Twenty-five years as a scientist has taught me that the science rarely fails. What fails is the space between — between labs and families, between funders and field, between urgency and patience. I built my career learning to hold that space.
Early in my career, at the Solomon Park Research Institute, we would occasionally open our doors to ALS patients and their families. I was deeply focused on the work itself building the lab from scratch, establishing mouse models, designing protocols to understand genomic differences of ALS disease.
But when patients walked into that same space where I had spent so many hours pipetting and analyzing data, something shifted in me permanently. I didn't yet have the language to fully absorb what I was witnessing. But I made a decision: the work I do in this lab will support the trials that will one day help these people.
That promise — made to no one in particular, in a small research institute outside Seattle — is one I have been keeping for twenty-five years.
At a patient meeting, I met a father whose son had been diagnosed with a rare, progressive muscle disease with no approved treatment. His son hadn't come that day. The father told me quietly that his son was struggling & that the disease was taking not just his muscles but his spirit.
I told him honestly: the science was genuinely moving. Pharmaceutical companies were paying attention in ways they hadn't before. The research ecosystem was growing. Keep faith in your clinicians, I said. Keep hope.
I don't know if our conversation shifted something for him. That uncertainty is something I carry. But I've learned that showing up — with truth, with warmth, and without false promises — is itself a form of care.
When I began working with the Dup15q Alliance, I met parents of children with a rare neurodevelopmental disorder — many of whom experienced severe, daily seizures. I had always believed, as most scientists do, that the goal is the cure.
But sitting with these parents, listening to what they actually needed to get through the week, I realized something had been missing from how I evaluated research. A young researcher at that conference was developing a device to detect and help modulate seizures in children — not a cure, but a lifeline.
I began asking not just "does this move us toward a cure?" but "does this help a child get through today?" I carry that lesson into every program I now advise.
In a prior role at a rare disease foundation one of the project had been funded for multiple years. The science was interesting — but over time it was moving deeper into basic questions rather than toward the therapeutic outcomes the foundation existed to accelerate. So the decision was to made to not renew the grant.
The decision not to renew had to be written carefully. We were explicit about why the research direction didn't align with current priorities. We were equally explicit that this said nothing about the quality of the science or the scientist. And we offered to continue supporting her work in other ways: whatever she needed to stay in the ecosystem.
That philosophy -keep the scientist in the field even when you can't fund the project is one I absorbed completely. It shapes how I think about every funding decision I advise on.
One of the most important things is that keeping researchers engaged even when you can't fund them by providing mouse models, cell lines, reagents to scientists whose grants didn't come through is as strategically important as any single grant.
When we organized the 2024 Jain Foundation Dysferlin meeting and presented findings to a patient group in India, it wasn't just disseminating science. But demonstrating to everyone in that room — researchers, families, clinicians, pharma partners & that this disease has a community behind it.
That community signals to pharma that the infrastructure exists, that patients are engaged, that the path from discovery to trial is shorter here than elsewhere. Building that ecosystem is the strategy.
I've learned to do this by looking backward as often as I look forward. When I feel the weight of how slow the science seems, I remind myself and the families I speak with of how far we have come. The existence of gene therapy as a viable modality for rare diseases, the growth of patient advocacy as a discipline, the increasing interest of large pharma in orphan indications - none of this existed in the same form when I began.
Progress is real. It is just rarely fast enough. Every day this work asks me to do two opposite things at once: sit with families who are suffering right now, and keep faith in science that may take ten or twenty years. That balance is the job. It is one I practice every day.
Every rare disease program has its own shape. I'd like to understand yours.