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At NORD\u2019s 2nd Annual Rare Disease Scientific Symposium<\/a>, the central question was not whether rare disease innovation is possible, but how to make it faster, more coordinated, and more accessible.<\/p>\n Held April 14\u201315, 2026, in Arlington, Virginia, the Symposium brought together more than 400 attendees in person and virtually from across research, clinical care, industry, academia, federal agencies, and patient advocacy. The energy in the room was fueled by scientific progress already underway and the urgent challenge of developing systems to bring this progress to patients.<\/p>\n As NORD CEO Pamela Gavin noted in her opening remarks, the greatest challenge is a systems challenge. How do we move faster? How do we bring more therapies to more patients? How do we build systems that match the speed of scientific discovery? And how do we grow and sustain an infrastructure to support the work that is already underway \u2014 including funding and fueling working groups, published papers, and monthly case conferences \u2014 across the network of 46 NORD Rare Disease Centers of Excellence<\/a>?<\/p>\n \u2014 Pamela Gavin, <\/strong>Chief Executive Officer, NORD<\/strong><\/p>\n<\/div>\n<\/div>\n Building better and more collaborative systems was the focus of this year\u2019s Symposium. Across 1.5 days, leaders explored how to turn breakthroughs into real-world impact: smarter trial design, stronger data systems, more flexible regulatory pathways, sustainable funding strategies, and earlier attention to access and coverage.<\/p>\n By bringing leaders from across the rare disease research ecosystem together, the Symposium has become a powerful engine for progress. It is where experts exchange lessons, challenge assumptions, and build new partnerships \u2014 not only during presentations, but in the hallways, between sessions, and through conversations that continue after closing remarks. It is where ideas are shared, collaboration takes shape, and breakthroughs happen faster because progress is built through this one-of-a-kind NORD convening.<\/p>\n Read on for key takeaways from this year\u2019s NORD Scientific Symposium.<\/p>\n Great news!<\/strong> You can still access these engaging discussions and expert presentations through downloadable Symposium sessions<\/a> available for just $25. Every purchase supports NORD\u2019s mission and future programming to help drive progress for the rare disease community. Registered attendees will receive free access to all sessions via email.<\/p>\n Most of all, thank you again to our sponsors, speakers, partners, and attendees for helping make the 2026 NORD Rare Disease Scientific Symposium a success.<\/p>\n To access recordings of every keynote and panel from the 2026 NORD Symposium, visit nordscience.org<\/a>.<\/strong><\/p>\n \u2014 Annica Wayman, PhD, Deputy Director, National Center for Advancing Translational Sciences (NCATS), NIH<\/strong><\/p>\n<\/div>\n<\/div>\n Senior leaders from the U.S. Food and Drug Administration (FDA) and National Institutes of Health (NIH) made clear in their keynotes that their agencies support this vision and are setting ambitious goals for realizing it.<\/p>\n In her keynote, Annica Wayman, PhD, Deputy Director of the National Center for Advancing Translational Sciences (NCATS) at NIH, reiterated what we know too well \u2014 that less than 5% of rare diseases have an FDA-approved treatment. What she said next excited everyone working to improve that ratio: \u201cWe want to get that number up to about 25%.\u201d<\/p>\n Dr. Wayman laid out a long list of initiatives focused on growing the translational infrastructure needed to move therapies from discovery toward patient use: prioritizing real-world data systems, expanding the Genetic and Rare Diseases Information Center (GARD) to match more patients with clinical trials, exploring platform-based therapy development for multiple disorders at once, publicizing the playbook for somatic cell gene editing (SCGE), assessing the feasibility of expanded whole genome sequencing through BEACONS, and many more.<\/p>\n On the regulatory side, Tracy Beth H\u00f8eg, MD, PhD, Acting Director of FDA\u2019s Center for Drug Evaluation and Research (CDER), reemphasized the agency\u2019s recently released Plausible Mechanism Framework<\/a> for developing individualized therapies for genetic disorders, adding that clarifying guidance will be coming soon from the FDA\u2019s Center for Biologics Evaluation and Research (CBER). To begin to demonstrate the FDA\u2019s intended approach, she referenced recent rare disease approvals that used fit-for-purpose evidence strategies including external controls, observational data, real-world evidence, and expanded access data.<\/p>\n Together, these keynote perspectives underscored that rare disease progress depends not only on innovation in the lab, but also on building workable pathways for development and delivery.<\/p>\n<\/div>\n<\/div>\n Rare diseases may look very different from one another, but the challenges of developing therapies for them are often shared. Small patient populations, limited natural history data, difficult endpoint selection, and persistent barriers to access show up across disease areas, even when the underlying biology differs. The Symposium created space to compare approaches and share lessons that don\u2019t always travel across fields and subspecialties. The resulting conversations and connections were a hallmark feature of the event.<\/p>\n One shared challenge is how to generate rigorous evidence when conventional large trials are not realistic. Sessions on Bayesian and adaptive trial designs, alternatives to placebo controls, and other innovative clinical trial designs all approached this issue.<\/p>\n Several speakers from the NORD Rare Disease Centers of Excellence illustrated specific approaches to clinical trial design. Kelley Kidwell, PhD, of the University of Michigan School of Public Health, described snSMART designs that can reduce placebo exposure, increase efficiency, and support adaptation. Jaishri Blakeley, MD, of Johns Hopkins University, showed how platform and basket trials in neurofibromatosis can evaluate multiple manifestations of disease within a shared framework. Dr. Blakeley offered one of the meeting\u2019s most practical lines: researchers should \u201cstart with the label,\u201d designing studies from the outset with a clear understanding of what evidence will ultimately be needed for FDA approval.<\/p>\n<\/div>\n<\/div>\n Generating evidence in rare diseases increasingly depends on data infrastructure built well before a pivotal trial begins. Sessions on endpoint selection, registries, and real-world data highlighted how natural history studies, biobanks, electronic health records, and patient-reported data are central to drug development.<\/p>\n This infrastructure is being built and utilized right now, as illustrated by several speakers:<\/p>\n This illustrated the purpose of NORD\u2019s IAMRARE program<\/a>, home to more than 70 patient-powered research studies representing more than 140 rare diseases.<\/p>\n Rare disease therapeutic development often follows unconventional pathways. One of those is drug repurposing, the subject of one of our panel discussions. Tapping into the potential of existing therapies, by building on what is already known about their safety and pharmacology, is one avenue for rare disease research that can deliver faster treatments, panelists argued.<\/p>\n Kasha Morris, presenting on the TANGO2 Research Foundation, also underscored the importance of patient- and caregiver-observed data in identifying clinically meaningful patterns that may not emerge through traditional research pathways alone. Her story also highlighted how collaboration with patient advocacy groups can accelerate rare disease research by connecting lived experience, natural history data, clinical expertise, and therapeutic hypothesis generation.<\/p>\n A separate session on shelved therapies added another important dimension by showing that scientific success alone does not guarantee continued development; often, potentially useful products are shelved or abandoned simply because commercial incentives do not align. Alternative programs may provide new homes for these therapies that benefit rare patient communities.<\/p>\n<\/div>\n<\/div>\n Finally, a session on the FDA\u2019s newly released plausible mechanism framework explored how bespoke or individualized therapies might advance utilizing evidence packages that are better suited for rare conditions with known genetic targets. NORD is continuing to inform our community about the plausible mechanism framework, including through a recent webinar available on YouTube<\/a>.<\/p>\n In a session about funding rare disease research, speakers examined venture philanthropy, balancing immediate patient support against longer-term research investment, and community-based financing approaches, all against the backdrop of a field where scientific need is high but commercial incentives may be uncertain.<\/p>\n The final panel on access and coverage brought that reality into sharper focus. Ravi Pathak, PhD, MBA, of Takeda argued that evidence is often built for regulators but not for payers. Danny Yeh, PhD, of Aesera emphasized that access decisions require evidence not only of efficacy, but also of value, affordability, and real-world impact. The broader message was clear: if access is the goal, then access has to shape development strategy very early in the process. Payers should proactively signal their evidence needs, and sponsors should invest in generating that evidence where it\u2019s needed most.<\/p>\n<\/div>\n<\/div>\n We are grateful to all of our 2026 Symposium exhibitors for showcasing their programs and forging connections with attendees. Some of the most meaningful conversations were sparked in the exhibition hall during breaks and networking sessions, and long after the closing comments. Your commitment to advancing research, innovation, and patient care in rare disease strengthens every breakthrough that emerged from this event.<\/p>\n\n We took time to celebrate leaders whose achievements have helped shape the rare disease field and accelerate progress for patients and families. It was especially fitting to recognize these honorees in a room filled with peers and changemakers.<\/p>\n As the first two recipients named in NORD\u2019s 2026 Rare Impact Awards, the Medical & Scientific Trailblazer honors were presented to Susan Berry and Stephen Kingsmore. Dr. Berry\u2019s pioneering leadership in medical genetics, metabolic care, newborn screening, and lifelong patient-centered systems has transformed standards of care for generations. Dr. Kingsmore\u2019s groundbreaking work in rapid genomic diagnosis has compressed some diagnostic timelines from years to hours and helped build the future of precision medicine for critically ill children.<\/p>\n Together, they represent the innovation, urgency, and vision that moves the field forward.<\/p>\n While in the neighborhood, we made an important stop on Capitol Hill\u2014bringing together a powerful cross-section of rare disease advocates to meet with members of Congress on policies that can improve access to care and accelerate progress.<\/p>\n We\u2019re grateful to our NORD Students for Rare chapters, leading clinicians and researchers from the NORD Centers of Excellence network, and patient advocacy partners who helped elevate priority policies including access to medical foods and formulas and recognition of genetic counselors as essential providers. Thank you to everyone for sharing their powerful testimonials with lawmakers.<\/p>\n Take Action:<\/b> Support these bills by clicking here for Medical Nutrition<\/a> and here for Access to Genetic Counselor Services<\/a>.<\/p>\n The NORD Symposium offered a clear picture of a field that is becoming more connected, more data-driven, and more intentional about how therapies move from discovery toward clinical care. Trial design, endpoint development, patient experiences, regulatory strategy, funding, and affordability are increasingly part of the same conversation.<\/p>\n NORD is grateful to all of the speakers, moderators, panelists, sponsors, attendees, and staff whose expertise and effort made this event possible. We are also grateful to exhibitors who presented about the work of their organizations, institutions, and companies. We look forward to continuing these conversations at the 2027 NORD Rare Disease Scientific Symposium.<\/p>\n To access recordings of every keynote and panel from the 2026 NORD Symposium, visit nordscience.org<\/a>.<\/b><\/p>\n The 2026 NORD Scientific Symposium was made possible by the expertise and teamwork of staff both on-site and behind the scenes. Here are just a few faces of the team behind the magic on-site.<\/em> Advancing Innovation in Rare Disease Research At NORD\u2019s 2nd Annual Rare Disease Scientific Symposium, the central question was not whether rare disease innovation is possible, but how to make it … <\/p>\n\n![\"NORD](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/55210114602_bfd296839c_k-300x200.jpg\")
<\/div>\n\n\u201cRare disease is no longer a scientific challenge alone. It\u2019s a systems challenge.\u201d<\/em><\/h3>\n
In Case You Missed It:<\/h2>\n
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<\/div>\n\n“Less than 5% of rare diseases have an FDA-approved treatment. <\/em>We want to get that number up to about 25%.\u201d<\/em><\/h3>\n
Strong Commitments from Government Officials<\/h2>\n
![\"Slides](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/Image-80.jpg\")
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<\/div>\n\nRedefining Clinical Research Design<\/h2>\n
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<\/div>\n<\/div>\nData as the Foundation<\/h2>\n
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New Pathways, New Possibilities<\/h2>\n
\n![\"FDA](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/FDA-Drug-Repurposing-Slide.jpg\")
<\/div>\n![\"Drug](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/Drug-Repurposing-TANGO2ResearchFoundation.jpg\")
<\/div>\n<\/div>\n\n![\"Tango2ResearchFoundation\"](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/Tango2ResearchFoundation.jpg\")
<\/div>\n<\/div>\n\n![\"Matthew](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/Matthew-Porteus.jpg\")
<\/div>\n\nSuccess Requires Access, Not Just Approval<\/h2>\n
\n![\"Nicole](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/Nicole-Paulk.jpg\")
<\/div>\n\nCollaboration in Action<\/h2>\n
Honoring Medical & Scientific Trailblazers<\/h2>\n
\n![\"RIA](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2026\/05\/NRD-2441-RIA-2026_Symposium_3-copy-scaled.png\")
<\/div>\n<\/div>\nBringing Rare Voices to Capitol Hill<\/h2>\n
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<\/div>\n<\/div>\nMoving Forward Together<\/h2>\n
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