Time Is Lives: How Collaboration And Urgency Are Rewriting The Future Of Rare Disease

By Rob Freishtat, MD, MPH

A year ago, I wrote about the N=1 frontier and the revolutionary potential of truly personalized medicine. Since then, more remarkable things have happened to make the theoretical become operational. We're not just talking about what's possible anymore; we're watching it happen in real time.

The inflection point I sensed then has arrived. What once seemed like isolated breakthroughs are now converging into a movement that's fundamentally rewriting how we approach rare disease. The shift is no longer incremental; it's transformative.

When Competition Gives Way To Collaboration

For decades, the pharmaceutical and biotech industries operated on a simple premise: They guarded their intellectual property, protected their competitive advantage, and kept everything close to the vest.

That paradigm is crumbling before our eyes, and rare disease is leading the charge.

I've spent the past several months helping to build multi-institutional alliances and networks that would have been unthinkable five years ago. Industry players who traditionally compete are now sharing platforms and data. When I was first asked to help bring these institutions and groups together, I anticipated significant friction. Instead, I've witnessed a willingness to collaborate that represents a genuine cultural shift.

The catalyst that seemed to change everything was Baby KJ. When he received a bespoke gene therapy designed specifically for a rare metabolic disease, it proved the entire system could be disrupted and reimagined to make the impossible, possible. But Baby KJ required multiple entities — including Children’s Hospital of Philadelphia, the University of Pennsylvania, Danaher (Aldevron, IDT), Acuitas, IGI, and Jax — that don't normally work together to collaborate. That lesson wasn't lost on the field.

Now we're seeing initiatives bringing together academic powerhouses, industry leaders, and advocacy organizations. The ARPA-H THRIVE program announcement catalyzed many of these collaborations by explicitly encouraging teams to work together. What's striking isn't just that these partnerships exist — it's that they're actually producing results.

Perhaps most tellingly, a member of the team that developed Baby KJ's therapy recently published their experience working with the FDA to propose an umbrella study for all urea cycle disorders. They didn't just succeed; they took it several steps further and shared the playbook. That's the new normal we're building.

Time As The Ultimate Outcome

In rare disease, time isn't just money; time is lives. This recognition is fundamentally reshaping how we approach clinical development and regulatory pathways.

Baby KJ's case illustrates this perfectly. The team spent millions of dollars to cure one patient. Normally, this amount might seem staggering for one patient when framed that way. But they also compressed what would traditionally take years into months, proving speed and precision are compatible.

Can we replicate that exact process for every patient? No, and we shouldn't try. What cost millions for one patient needs to be streamlined to something sustainable and reproducible. But Baby KJ demonstrated that when we treat time as a critical determinant of outcome, we find ways to move faster than we thought possible.

The FDA is signaling they understand this. They're publishing guidance specific to rare disease. They're responding favorably to novel trial designs. Most importantly, they're not prescribing exactly how things must be done. Instead, they're inviting us to collaborate with them to figure out what works. This is regulatory innovation in real time where everyone is playing nicely in the sandbox to iterate, adapt, and focus on the ultimate goal of getting therapies to patients who can't afford to wait.

The Rise Of Mission-Driven Medicine

Perhaps the most exciting development is the emergence of a new generation of organizations that refuse to accept the false choice between impact and sustainability.

Public-benefit corporations and mission-driven ventures are proliferating in the rare disease space, and they're fundamentally different from traditional biotech. These organizations operate with business discipline — they need to be financially viable — but they're anchored in patient impact from day one.

Access is baked in from the beginning.

Family offices, those private wealth management advisory firms that support high-net-worth individuals, are flooding into this space with a different motivation than traditional venture capital. Many represent aging generations seeking impact beyond having their name on a university building.

Rare disease offers them something unique, like smaller but impactful check sizes ($5 million to $10 million instead of $50 million to $100 million), shorter timelines, and de-risked science that can treat patients within a few years.

This isn't traditional venture capital looking for 10x returns. These are investors who want some return but mostly want to make a difference. And because the science has matured to the point where we can actually deliver on these promises now, they're writing checks.

How “Rare” Is Rare?

My fundamental belief is every disease is becoming a rare disease. Each person is an N of one.

This isn't as radical as it sounds. When you're diagnosed with hypertension, your doctor already conducts an individual experiment. You try one drug based on what is likely to work in someone with your personal characteristics, switching if it doesn't work, adjusting doses, adding combinations. We've always practiced personalized medicine; we just didn't have enough data to make it truly personalized.

Now we do. Soon, we'll design therapies specifically for each person. Cancer treatment is already there for many patients; every tumor is a rare cancer once you subtype it enough.

The innovations we're pioneering in rare disease through collaborative models, regulatory frameworks, mission-driven organizations, and the urgency around time are no longer niche solutions for obscure conditions. They're the blueprint for medicine's future.

What Success Looks Like

Five to 10 years from now, if these dynamics continue, "rare disease" will mean something fundamentally different. Collaboration will be the default, not the exception. Bespoke therapies will be developed in months, not years. Access will be baked into business models from the start. And most importantly, patients won't have to wait while we figure out how to make the economics work — the economics will already work because we've built systems designed for sustainability and scale.

The patients receiving N=1 therapies today aren't just beneficiaries of medical progress. They're pioneers building the infrastructure for a future where truly personalized care is the standard, not the exception.

We have the science. We have the willingness to collaborate. We have organizations willing to do things differently. The inflection point has arrived. Now comes the hard work of turning momentum into permanence and lives saved into systems transformed.

About The Author:

Rob Freishtat, MD, MPH, is the former president and co-founder of Uncommon Cures, where he spearheaded the development of global, innovative clinical trial programs for rare diseases. Today, he leverages that experience to advise companies on innovative strategies in this space and serves as a board member of the Foundation for mRNA Medicines, applying his expertise in translational science and clinical research to advance the next generation of mRNA therapies. Dr. Freishtat earned his MD from the University of Maryland and his MPH from George Washington University.