In honor of Undiagnosed Day on April 29, the National Organization for Rare Disorders (NORD) celebrates the health care providers of today and tomorrow who are working to shorten the diagnostic odyssey that so many in the rare disease community have faced.
Medical students are taught that “when you hear hoofbeats, think horses, not zebras.” It’s a mantra rooted in probability – common conditions are more likely than rare ones. Yet for the 1 in 10 Americans living with a rare disease, being the “zebra” often means enduring a long road to diagnosis, marked by fragmented care and frustration.
These challenges are likely exacerbated by the fact that rare diseases receive minimal attention in early medical training. To improve how people with rare diseases receive care – and help them secure a diagnosis sooner – a group of medical students from Georgetown University School of Medicine and the University of Pennsylvania Perelman School of Medicine, in collaboration with NORD, is working to transform medical education.
The students’ journey began at NORD’s 2022 Breakthrough Summit, which they attended as members of NORD’s Students for Rare program. Their discussion centered on how to better integrate rare disease training into curriculum. This conversation resulted in a white paper, “Zebras Among Us: Advocating for the 30 Million Americans Living with Rare Disease.” The publication outlined the challenges that rare disease patients face as well as opportunities to improve their care, starting with future physicians.
Among several ideas, the paper highlights patient panels as a key training tool, used at both Georgetown and the University of Pennsylvania, where medical students hear personal stories from people living with a rare disease. These first-hand accounts bring abstract diagnoses to life and give students a glimpse into patients’ positive and negative interactions with the healthcare system. For Georgetown student Eric Wan, the white paper’s lead author, patient panels provide more than practical knowledge. They also help create empathy.
“This isn’t just about teaching students a bunch of facts. It’s about creating a framework for lifelong learning and better patient care,” said Wan. “The goal is to foster students’ passions and skillsets as well as a mindset where no patient feels overlooked or unheard.”
Building on this momentum, the students embarked on developing a second manuscript. Led by Sharon Huynh, also attending Georgetown, the new research delved deeper into actionable strategies for implementing rare disease education, including a review of examples from medical schools around the world.
The students presented their initial findings at NORD’s 2024 Breakthrough Summit, reporting that different types of interventions – such as lectures, simulations and the use of artificial intelligence – significantly improved medical students’ knowledge and regard for rare diseases. However, they also found that one critical piece – patient and caregiver perspectives – was rarely included, an outage that the students hope more medical schools will work to incorporate. A manuscript detailing their full findings is in review, with a goal of publication in 2025. The team also is aiming to present their research at the 2025 American Medical Association (AMA) Annual Meeting.
NORD’s support has been instrumental, providing resources, patient connections, and opportunities for students to present their work at national conferences. Huynh sees this as just the beginning.
“Our hope is that we’ve created a starting point for meaningful discussions, where curriculum makers nationwide are inspired to adapt and tailor rare disease education to their unique contexts,” Huynh said.
The students recognize the difficulty of integrating rare disease training into an already demanding medical curriculum. Collaborating closely with faculty, they are working to identify additional opportunities to embed rare disease education more consistently throughout all four years of medical school. Their hope is that these efforts will inspire other institutions to follow suit, not only increasing awareness about rare diseases but also creating a future generation of well-prepared healthcare providers.
Robin Yoon, a fourth-year medical student at Georgetown, notes the change can’t come soon enough.
“Rare diseases are being discovered at an unprecedented rate—up to 700 annually,” Yoon said. “It doesn’t matter what specialty a medical student chooses, they’re going to encounter rare diseases. The question isn’t whether they’ll see one but how prepared they’ll be to recognize it and act with compassion and expertise.”
About NORD Students for Rare
NORD’s Students for Rare program unites high school, college, and graduate students to learn about and raise awareness of rare diseases. Members develop leadership experience, network with like-minded peers and professionals, gain access to NORD webinars and educational resources, and receive priority consideration for scholarships to attend NORD conferences. The first Students for Rare chapter was established in 2015 at Keck Graduate Institute in Claremont, Calif, and the program has since grown to include more than 70 active clubs and chapters across the United States. Learn more here.