Rare Disease Day 2026 at the Food and Drug Administration carried a tone of urgency, momentum, and collaboration. The theme is ““Moving forward. Looking ahead. An event for patients.” Throughout the event, agency leaders, clinicians, patient advocates, and scientists emphasized that progress in rare diseases depends not only on regulatory flexibility, but on listening carefully to the lived experiences of patients and families.
Martin Makary, MD, MPH, commissioner of the FDA, opened the event by capturing the spirit of the rare disease community. “A compelling one to ask, is there literally anything possible that can be done to help. It instills a deep sense of urgency to move mountains or do whatever to make something happen to help people. I believe that’s the defining feature of the rare disease community.”
Rare Infectious Diseases Infection Preventionists Should Know
Rare Disease Day Spotlight: Infection Control and Emerging Pathogens
While rare infectious diseases may not drive daily health care-associated infection dashboards, they present high-impact diagnostic, isolation, and outbreak preparedness challenges. For Rare Disease Day/Week/Month, here are rare but consequential infectious threats every infection prevention and control (IPC) professional should keep on the radar.
IPC Focus: Early recognition and strict airborne and contact precautions are critical. High mortality and health care worker exposure risk make rapid isolation and personal protective equipment (PPE) adherence essential.
IPC Focus: Zoonotic risk underscores One Health surveillance. Hospitals must coordinate with public health when unexplained severe respiratory or neurologic illness follows animal exposure.
IPC Focus: Not typically transmitted person-to-person, but severe neurologic presentations require rapid triage, mosquito surveillance coordination, and public health reporting.
IPC Focus: High-consequence pathogen requiring immediate isolation, full barrier precautions, and coordination with state and federal authorities. Laboratory handling protocols are critical.
IPC Focus: Travel history screening is vital. Prompt recognition prevents secondary transmission in health care settings.
IPC Focus: While not transmitted person-to-person, cases raise environmental water safety concerns and highlight the importance of safe water practices in health care facilities.
IPC Focus: Unique sterilization challenges. Standard disinfection may be insufficient for prions, requiring specialized instrument reprocessing protocols in surgical and neurologic procedures.
IPC Focus: A multidrug-resistant fungal pathogen requiring contact precautions, enhanced environmental cleaning, and careful laboratory identification to prevent outbreaks.
IPC Focus: Tick-borne risk with severe neurologic outcomes. Emphasizes travel and exposure history and coordination with public health authorities.
IPC Focus: Not healthcare-associated, but diagnostic delays can occur. Highlights the importance of global migration awareness and culturally informed care.
Why This Matters for Infection Prevention
Rare infectious diseases test systems, not just science. They challenge:
- Travel screening workflows
- Cross-agency communication
On Rare Disease Day, the reminder for IPC leaders is clear: rare does not mean irrelevant. Preparedness, surveillance, and stewardship remain foundational.
That urgency is shaping policy. Makary highlighted longstanding tools such as the Orphan Drug Act, tax credits for clinical trials, expanded access authorizations, and the pediatric priority voucher program. “These are all great, but we need to keep going,” he said.
Among the newest developments is the Plausible Mechanism Framework, originally described in The New England Journal of Medicine. Makary explained that for ultrarare and individualized therapies, traditional randomized controlled trials may not be feasible. “Scientists are now very good at characterizing the molecular changes that underlie a genetic disease,” he noted. The new framework is designed to streamline regulatory pathways when evidence must sometimes be generated in very small populations, even in an n-of-1 setting.
Speed is another priority. The FDA’s national priority voucher pilot program can accelerate review from ten to twelve months down to one to two months. “We need to get life changing therapies to patients at the speed of science,” Makary said.
Throughout the day, speakers underscored that rare diseases are not rare in aggregate. As Amy Comstock Rick, JD, director of the Rare Disease Innovation Hub, reminded attendees, “There are between 7,000 and 10,000 known rare diseases, and there are 30 million Americans with rare diseases. Rare disease is not rare.”
The Rare Disease Innovation Hub itself was created to enhance coordination across FDA centers and accelerate development. Its RISE workshops address cross-cutting scientific challenges, including trial design in very small populations and individualized therapies. The goal is to ensure that regulatory flexibility is applied thoughtfully and consistently.
Patient engagement emerged as a central theme, particularly in cell and gene therapy. Najat Bouchkouj, MD, associate director for pediatrics at the Center for Biologics Evaluation and Research, described recent patient listening sessions. “Patients and caregivers told us they need transparent risk information presented in plain language,” she said. They also emphasized that “quality of life outcomes matter just as much as toxicity data.”
The FDA is increasingly incorporating decentralized approaches for long-term follow-up, including telehealth and local laboratory testing, to reduce burdens on families. Bouchkouj stressed that partnership is essential. “Patients and their families are essential partners in our work. Their lived experiences and insights into what matters most are shaping our regulatory approach.”
On the oncology front, Kristen Wessel from the Oncology Center of Excellence highlighted the continuing unmet need in osteosarcoma, where survival gains have plateaued for decades. Patient advocates at a recent workshop expressed frustration that standard treatment has not changed in forty years. One advocate, Ally Murdoch, whose daughter died of osteosarcoma, said, “As a parent, I’m not looking for a grand slam. I will take singles and doubles all day if it means my child can live longer.”
That perspective reframes how incremental survival improvements are viewed in rare cancers. Even modest advances can mean precious time.
Neurofibromatosis type 1 (NF1) was also discussed in the broader context of rare disease innovation. The FDA previously approved selumetinib for plexiform neurofibromas in NF1 using a single-arm trial supported by natural history data and patient-reported outcomes. The example illustrates how flexible designs and meaningful endpoints can bring treatments to patients with conditions that historically had few options.
For many families affected by NF1 and other rare conditions, Rare Disease Day is personal. In my recent LinkedIn newsletter reflecting on Rare Disease Month and my mother’s experience with NF1, I wrote about the intersection of science, advocacy, and gratitude. Events like this FDA gathering show how far the field has come and how much work remains.
Makary closed his remarks with a challenge: “We have opportunities before us, and the question is, are we going to act, or are we going to do nothing and accept the status quo? In my opinion, we need to act.”
FDA’s Rare Disease Day 2026 made one thing clear. The agency, industry, researchers, and patient communities are choosing action.
As the daughter and granddaughter of loved ones with a rare disease, I am thankful.
