If you’re living with a rare disease — or caring for someone who is — you’ve likely faced the challenge of trying to understand a condition that your doctor hasn’t seen previously. The journey to diagnosis, treatment, and daily management often requires patients and caregivers to become experts themselves.
As researchers at Yale University recently emphasized, “patients with rare diseases and their caregivers play outsized roles in their medical care due to limited treatment options and specialists,” making access to trustworthy, understandable information – like the National Organization for Rare Disorders’ (NORD®) Rare Disease Database — more important than ever. Fortunately, new efforts are underway to make medical knowledge more accessible to the people who need it most.
A key development is the National Institutes of Health (NIH) announcing that its updated 2024 Public Access Policy will now take effect on July 1, 2025 — six months earlier than originally planned. This policy, which updates one originally enacted in 2008, provides earlier access for patients and caregivers to federally funded research.
For years, NORD has been a trusted source for clear, patient-friendly information on rare conditions. Through the Rare Disease Database, NORD publishes expert-reviewed reports that help individuals understand symptoms, causes, methods of diagnosis, available treatments, and where to seek support. These reports are among the most visited resources on NORD’s website, receiving approximately 1.5 million visits each month.
To meet growing needs, NORD is expanding its efforts in several key ways:
- NORD now includes in-text citations and primary sources in reports to make research easier to trace and understand.
- Many reports are now available in Spanish, with more translations underway.
- The Rare Disease Database has been expanded through partnerships with MONDO, Orphanet, and Online Mendelian Inheritance in Man (OMIM) to include reliable information on additional rare conditions — even when a full NORD-authored report isn’t yet available.
The NIH’s updated policy and NORD’s ongoing efforts reflect a shared commitment to maximum transparency. Access to clear, high-quality information can be life-changing for those navigating a rare disease.
NORD applauds the NIH’s leadership and remains dedicated to working with medical experts and patient advocacy organizations to provide trusted information and support greater open access across the research community.
Whether you’re newly diagnosed, supporting a loved one, or seeking answers after years of uncertainty, NORD’s resources are designed to be approachable and empowering. Explore NORD’s Rare Disease Database here, and find other resources for patients and caregivers here.
