WRITTEN BY ANGELA MARCOLINI
On any given summer day in Bar Harbor, families gather on the grassy knoll overlooking Frenchman Bay, eating ice cream and laughing in the sun as they reminisce about a day spent exploring the nearby trails in Acadia National Park. Meanwhile, just beyond the bustle of downtown, small teams of world-renowned scientists gather around conference tables and video screens to talk about children they know by name and diseases few doctors have ever encountered.
At The Jackson Laboratory’s Rare Disease Translational Center (RDTC), a research program often begins with a single child, a single gene, and a family that has already traveled a long road to get there. These families have become the unlikely medical experts in their child’s condition. They have read the scientific papers, connected with other patients across the world, and searched for anyone who might be able to help.
“Parents come to us after they’ve figured out what gene is involved and what mutation their child has. It’s a long journey to diagnosis,” said Cat Lutz, vice president of the RDTC. “With legislative pressure to make genome sequencing more accessible, the goal is to see these kids earlier, where we have a reasonable chance to develop their possible treatments.”
A diagnosis brings answers to missed developmental milestones and physical symptoms, but it also brings a new kind of uncertainty: the realization that treatment may not yet exist, and that progress depends on building something that has never been built before. For many parents, the center represents both a turning point and a partnership. The question has shifted from What’s wrong? to What can be done?
When Treatment Doesn’t Exist
For families, the possibility of treatment can feel both immediate and distant at the same time. The science has advanced quickly, but experiments still need to be done, and building therapies still requires navigating a system that was never designed for diseases like theirs.
What many families discover is that the disease affecting their child is so rare that almost no organized research exists. For most of modern medicine, that absence made a certain kind of sense. Drug development is expensive and uncertain work, and the system that evolved around it depends on scale and profit. Therapies are designed for large patient populations and developed over long timelines, supported by markets capable of sustaining the investment required to bring a drug to patients.
Rare diseases rarely fit that model.
“It’s just not a sustainable financial model for most companies,” Lutz said. “We need to stop trying to shoehorn rare genetic diseases into the existing drug development paradigm. Instead, we need to build the ecosystem of innovation that supports economic sustainability in platformed approaches where every rare disease treatment directly informs the next.”
Many rare genetic disorders affect only dozens or hundreds of patients worldwide. Even within a single disease, dozens of mutations may exist, each requiring a slightly different therapeutic approach.
Thus, progress depends on a different kind of support. Much of the work moves forward through a combination of public investment, research grants, and philanthropy. Federal agencies such as the National Institutes of Health play a crucial role, funding the early scientific work that makes new therapies possible and helping sustain research that may never attract traditional commercial investment.
Without that support, many rare disease programs would never begin.
The mismatch between cost and population has shaped rare disease medicine for decades. Families often become the engine of discovery, building foundations, raising research funds, and connecting with scientists across the world. “Lessening this burden for families is a large part of our mission,” Lutz said.
Rare Is Not Rare
Rare diseases can sound distant, defined by conditions so uncommon that most people will never hear their names. Taken together, they are anything but rare. More than 10,000 rare diseases have been identified worldwide, affecting hundreds of millions of people collectively. Approximately 30% of children with a rare genetic disease don’t live to see their fifth birthday. For those that do survive, their symptoms continue across a lifetime.
Seen this way, rare disease research begins to look less like a specialized corner of medicine and more like a vast and largely unsolved frontier.
For much of the past, that frontier remained out of reach. The scientific barriers were as formidable as the economic ones. The tools needed to correct genetic disease simply did not exist.
A New Model of Drug Discovery
What has changed in recent years is not the diseases themselves but the technologies available to treat them.
Gene replacement therapies, antisense treatments, and gene editing have made it possible, at least in principle, to correct the mutations that cause many rare conditions. Diseases once understood only at the level of biology can now be approached at the level of intervention.
“The technologies are largely there,” Lutz said. “Science isn’t the rate-limiting factor anymore.”
The challenge now is learning how to develop and deliver those therapies fast enough, and at a scale that makes them sustainable.
Traditional drug development unfolds in a careful sequence: discovery followed by preclinical research, clinical trials, and regulatory review. The process often stretches across a decade or more.
Rare diseases unfold on a different timeline. It starts after a diagnosis and the clock of someone’s life, often the life of a child, is ticking.
At the Rare Disease Translational Center, scientific research moves forward alongside manufacturing plans, trial designs, and regulatory strategy. Instead of waiting for one stage to end before another begins, teams work in parallel, compressing timelines wherever possible. “If you try to do everything in a silo, you’ll fail,” Lutz said.
The center operates as a network as much as a laboratory, bringing together leading experts in gene editing, viral delivery, and clinical medicine from institutions around the world.
At the same time, researchers are working toward treatment platforms that can be adapted across diseases rather than built from scratch each time. Instead of developing entirely new therapies for every mutation, scientists aim to modify shared technological frameworks, approaches that could make rare disease treatments faster and more affordable.
From One Child to Many
If scientists can solve the problem for one gene and one child, the solutions may extend far beyond rare disease.
Single-gene disorders offer some of the clearest test cases for precision medicine. The genetic cause is often known, the biological pathway can be traced, and the impact of treatment can be measured in direct and meaningful ways. For researchers, rare diseases provide an opportunity to develop and refine technologies that may later be applied much more broadly.
Technologies first developed to correct rare mutations are already beginning to influence how scientists approach more complex conditions. Methods for editing genes, delivering therapies to specific tissues, and manufacturing individualized treatments could eventually reshape how medicine treats diseases such as ALS, Parkinson’s, or Alzheimer’s disease, where genetic risk factors often play an important role but therapies have proven difficult to develop due the complexity of the disease.
In this way, rare disease research is not simply about treating small numbers of patients. It is helping to establish the scientific and regulatory foundations for a more precise kind of medicine, one that focuses on correcting the underlying causes of disease rather than managing symptoms after they appear.
The work happening under Lutz’s leadership represents the building blocks of that future. Each therapy developed for a rare mutation adds to a growing body of knowledge about how to design, manufacture, and safely deliver genetic treatments. What begins as a treatment for a single child can become a template for treating many others, sometimes across entirely different diseases.
“Hope has carried families a long way,” Lutz said. “But today we have something more than hope. We have the tools advancing faster than we imagined, especially with AI. What we need now is the funding and infrastructure to operationalize and scale.”
At JAX, that strategy is taking shape. Rare diseases are not the margins of medicine, but where the next generation of therapies is being built, right here on the coast of Maine, by a dedicated team of scientists working today, one child and one gene at a time for a future that benefits us all.
