Pamela Gavin, CEO of the National Organization for Rare Disorders, discusses NORD's origins in the advocacy movement that led to the Orphan Drug Act and its current mission to improve diagnosis, care, research, and policy for rare disease patients. She highlights the growing role of patient-led research, the need for more predictable regulatory pathways, new-born screening and workforce reforms, NORD's Rare Disease Centers of Excellence network, and the IAmRare research platform's contribution to accelerating treatment development and access.
NORD has been a fixture of the rare disease landscape for over four decades. Could you begin by introducing yourself and giving us a sense of the organization’s founding mission and how that shapes what it does today?
I’m Pam Gavin, CEO of the National Organization for Rare Disorders (NORD). Rare disease is not just my work, it has been part of my life for more than 30 years.
My nephew Trevor was diagnosed at age two and passed away at age nine from metachromatic leukodystrophy (MLD), a devastating rare neurological disease. My family experienced firsthand the uncertainty, isolation, and heartbreak that can come with a rare disease diagnosis, and NORD was an important source of information and support for us. That experience ultimately shaped the course of my life and continues to fuel my commitment to this community today.
I’m incredibly hopeful about the progress we’re seeing in science and medicine. Advances in research and technology are creating possibilities we could only have imagined when Trevor was diagnosed, including treatments for diseases like MLD that were once considered untreatable. There is tremendous opportunity ahead, and I’m passionate about ensuring patients and families remain at the center of that progress—and that its benefits reach everyone who needs them.
NORD was established by people living with rare diseases, their caregivers, and clinicians who came together to advocate for change. In the late seventies and early eighties, there were few treatments available for rare conditions. And for those diseases where treatments did exist, many products were being withdrawn from the market because patient populations were simply too small for companies to sustain those product lines commercially.
NORD’s founder, Abbey Meyers, and her colleagues made it their mission to persuade Congress to establish meaningful incentives for rare disease treatment development. What emerged, with Congressman Henry Waxman as their champion in government and ultimately with bipartisan support, was the Orphan Drug Act. NORD was incorporated just a few months after the Act passed in 1983, born directly from the coalition that had advocated for it.
Most of what NORD focuses on today is still rooted in those origins. We work to ensure there are meaningful incentives to drive innovation in rare disease treatment development and that the government has the proper systems and resources in place. This includes from NIH supporting rare disease research, to the FDA’s Office of Orphan Products, the orphan designation process, and the regulatory frameworks that have evolved since. NORD also helps shape federal and state policies that affect the daily lives of people living with rare conditions.
Our central purpose is advocating for the health and well-being of people living with rare diseases, and we pursue that through four pillars:
Advocacy, Engagement & Support: Strengthening the ability of individuals, families, and patient organizations (PAGS) to access trusted information and support to help PAGs build capacity and connect with one another, and to influence policy and systems change.
Access, Diagnosis & Care: Improving pathways to a timely diagnosis, specialty expertise, financial assistance, and appropriate standards of care through NORD’s Information and Patient Services capabilities, policy leadership, and Rare Disease Centers of Excellence Network of over 170 academic medical and research institutions throughout the U.S.
Research, Data & Innovation: Advancing patient-centered research by building patient organization capacity, improving rare disease data and registries, and expanding collaboration to accelerate innovation and help close the treatment gap—with only about five percent of more than 10,000 rare diseases having an approved treatment today.
Federal and State Policy: Shaping and advancing policies that drive innovation, expand access, and improve health outcomes for people living with rare diseases.We have over 350 patient advocacy member organizations that are not simply advocating for their communities, but actively driving research, raising money, and building the foundations that make discovery possible. They are the backbone of what NORD does. We help them build capacity, and collectively live the principle in our tagline: Alone we are rare, together we are strong. Beyond our membership, NORD also serves the hundreds of rare disease communities that do not yet have organizational representation, helping those groups build toward that capacity over time.
There is a growing conversation across the rare disease ecosystem about the increasing role of patients in shaping research, regulatory decisions, and policy. Where do you see patients having the greatest opportunity to deploy their voices most effectively?
One of the most uniquely powerful contributions patients and patient advocacy organizations can make is their deep knowledge of the disease itself, and their ability to help characterize it in a rigorous, measurable way that advances the science. When you consider that we know of roughly 10,000 known rare diseases, most patients cannot afford to wait and hope a pharmaceutical selects their condition as one worth pursuing.
Patients are often described as the experts on their own condition, and that is true – and that is absolutely true, but I would take it a step further. In partnership with NORD and others, patients can turn that lived experience into meaningful evidence that helps move research forward. They can help define what matters most to patients, identify meaningful outcomes, inform natural history studies and clinical trial design, and provide the foundational data that can attract researchers and industry to a disease.
In that way, patients aren’t simply contributing their voices to the drug development process—they can help shape it, accelerate it, and, in many cases, be the catalyst that gets it started.
NORD has been closely involved in the evolution of the FDA’s regulatory frameworks for rare disease over many years. What is the current state of that relationship, and what are you hearing from FDA leadership on their commitment to rare disease?
NORD’s engagement in the regulatory evolution for rare disease has been part of our core work for many years, and where we are today genuinely benefits from the accumulated weight of that effort. Orphan drug exclusivities, the Rare Disease Pediatric Priority Review Voucher (PRV) program, accelerated approval pathways, and successive Prescription Drug User Fee Act (PDUFA) reauthorizations have all built up a framework that has made a meaningful difference for rare diseases.
Very recently, senior Federal Drug Administration (FDA) leadership convened a closed session with key members of the rare disease community to make clear that they see and hear the rare disease community. They recognize how much has changed across the agency over the past year and reaffirmed their commitment to rare disease. The plausible mechanisms pathway was specifically acknowledged as a recognition of the need to evolve regulatory frameworks for smaller patient populations, and NORD is very supportive of that direction.
But our position has evolved, reflecting how much the broader field has matured. More than ten years ago, NORD commissioned a paper applauding the FDA for its flexible approach to rare disease. That was the right message at the time. Today, we have learned more, discovered more, and accumulated enough experience to move beyond relying on flexibility alone. What we need now is greater predictability, transparency, and consistency. The science and the medicine are genuinely challenging enough.
At NORD, we want that to be our biggest challenge, not systems and processes that can be optimized to help good products reach patients. And we are clear on one fundamental point: approval does not equal access. What comes after FDA approval is just as consequential for patients, and that requires attention well beyond the regulatory process.
What are NORD’s key policy priorities beyond the regulatory dimension?
There are several, but they cluster around two broad themes: the quality of the evidence base, and the integrity of the access pathway.
On the evidence side, having access to fit-for-purpose data is absolutely critical in rare disease. Real-world evidence, digital twins, synthetic data, rigorous biomarker development, and well-designed endpoints are all essential in a context where conventional randomized controlled trials are frequently not feasible. Leveraging AI tools in ways that meaningfully expand our ability to analyze data and generate evidence is also a significant priority.
On access, we think about this in two components: access to an appropriate and timely diagnosis, and access to appropriate standards of care and clinical expertise patients need once they have one. Those are distinct problems requiring distinct solutions.
Newborn screening is a pressing example. It does no good to have a treatment for a rare disease if patients are not screened and identified early enough to benefit from it. For some conditions, by the time symptoms appear, the treatment window may already be closing or closed entirely, hence the significance of newborn screening at birth. For years, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), provided rigorous expert scientific review to inform federal newborn screening recommendations that states could then use to make decisions about their own newborn screening programs.
Yet, last year the ACHDNC was dissolved leaving a gap in vital public health program. Only recently did HRSA announce a new stakeholder workgroup for evaluating conditions for inclusion on the Recommended Uniform Screening Panel (RUSP). NORD recognizes the establishment of this new process and recommends that the workgroup build upon the important work of the ACHDNC, maintaining the scientific evidence, rigor, transparency, and appropriate expertise necessary to evaluate proposed additions. With more treatments becoming available, ensuring a strong, reliable, and credible national newborn screening process is a priority for NORD.
We are also actively supporting the Genetic Counsellors Act, which has bipartisan support and has implications well beyond the rare disease community. Genetic counsellors play an essential role in rare disease diagnosis and care, yet they are not recognized as billable providers under Medicare in the same way nurse practitioners and physician assistants are recognized. At the same time, we face a serious workforce shortage of paediatric and adult geneticists.
That creates a fundamental disconnect: our capabilities in genetics and genomic science are advancing rapidly, but the healthcare infrastructure and workforce needed to translate those advances into patient care have not kept pace. Recognizing genetic counsellors as billable providers is one concrete step toward closing that gap.
Could you tell us more about what the NORD® Rare Disease Centers of Excellence network and what it means for patients navigating the rare disease landscape?
The thinking behind the program was really quite simple: our healthcare system was not designed for rare disease. The gaps that exist in the U.S. healthcare system are significantly amplified when you are dealing with a rare condition, and patients and families are often left to navigate those gaps themselves. We created the NORD Rare Disease Centers of Excellence network to help bridge them by strengthening the institutions and healthcare professionals serving rare disease patients every day.
The network now includes 49 members spanning more than 150 academic medical and research institutions across the country. Members commit to serving rare disease patients regardless of their specific condition, with the capacity to support both pediatric and adult care. While they may have particular areas of expertise—a phenylketonuria (PKU) program, cystic fibrosis (CF) clinic, or leukodystrophy center, for example—they must demonstrate the ability to care for rare disease patients broadly. Strong transitions from pediatric to adult care are also essential, as this can be one of the most vulnerable points in a patient’s healthcare journey.
Many of these institutions are also at the forefront of rare disease research, so the network creates an opportunity to connect clinical expertise with research and innovation. We bring members together to solve challenges that cut across individual diseases and, importantly, to apply what we learn in one rare disease to others. Through 13 working groups involving hundreds of clinicians, allied health professionals, bioethicists, and other experts, the network is developing and sharing resources and best practices that can improve rare disease care more broadly. To date, the network has conducted more than 90 case conferences, bringing together over 2,000 physicians, medical students, and healthcare professionals across specialties to solve complex rare disease cases in real-time.
Ultimately, this is about making expertise easier for patients to find and access. We are developing a hub-and-spoke model to extend the network’s reach into areas of the country where specialized rare disease care is limited and to help patient organizations access this infrastructure without having to build their own disease-specific centers independently. No matter where someone lives or how rare their condition is, they should have a pathway to the expertise and care they need. We are creating the infrastructure to make that a reality. Currently, the network has a presence in 28 states plus, the District of Columbia.
Are there any programs you would like to highlight?
The IAMRARE® Program Powered by NORD® research program is one I would not want to leave out, because it speaks directly to so much of what we’ve discussed.
Its origins go back to conversations with NIH and FDA around 2014, when we began asking how NORD could use its resources to help de-risk the development process and improve the odds of more treatments reaching patients. At the time, when new product applications arrived at FDA, regulators were often learning about the disease at the same time. There was very little published information, and valuable knowledge from patients and the clinical record was simply not making its way into research.
We set out to change that by creating a platform and support services that enable patient advocacy organizations to develop rigorous, fit-for-purpose natural history studies. Today, IAMRARE has grown to 80 patient-powered natural history studies with more than 24,000 consented participants, giving patients and rare disease communities a powerful way to contribute directly to research. These studies can help researchers understand disease progression and burden over time, identify what meaningful clinical change looks like for patients and caregivers, and potentially serve as external controls in clinical development. We also built the infrastructure—including an IRB framework—so organizations don’t have to create it all independently.
The platform was designed specifically for the flexibility rare disease research requires. Patient organizations can conduct natural history studies while researchers and biotech partners can build additional studies from that foundation, creating opportunities to generate evidence and accelerate development.
Last year, we saw the clearest demonstration yet of why we built IAMRARE. The Foundation for Prader-Willi Research developed a natural history study through the platform, and data from that study was ultimately submitted as part of a company’s regulatory application and contributed to the decision-making that led to the treatment’s FDA approval.
That is what this program is ultimately about: turning the knowledge and experiences of patients into evidence that can advance research and help move potential treatments forward. Along the way, these studies have also helped identify patients that researchers had been unable to reach, generated evidence presented at major medical meetings, and helped patient organizations attract greater scientific interest in their diseases. We are focused on building that momentum and expanding IAMRARE® data’s role in supporting more FDA-approved treatments.
