Patient Resources
We believe families deserve clear, honest information. These resources are here to help you understand rare disease research, learn the language, and connect with organizations that can support you on this journey.
Practical resources written in plain language to help you navigate the rare disease journey.
An overview of what to expect when starting the search for answers — from sample collection to treatment screening. Written for families, not scientists.
Download PDFA plain-language guide to reading genetic test reports, understanding variants, and knowing what questions to ask your genetic counselor.
Download PDFA practical checklist of questions to bring to your next appointment — covering diagnosis, treatment options, clinical trials, and next steps.
Download PDFThese guides are free to download and share. If you have questions or need additional resources, contact our team.
Rare disease research involves specialized language. Here are plain-language definitions to help you understand what it all means.
You are not alone. These organizations provide information, community, advocacy, and support for rare disease families.
National Organization for Rare Disorders
Information about rare diseases, patient organizations, community support, and physician awareness programs. NORD also offers patient assistance programs for medication costs.
Global Genes Foundation
Leading rare disease advocacy organization connecting over 500 patient organizations worldwide. Offers community forums, educational resources, and the RARE Disease Community discussion group.
EveryLife Foundation for Rare Diseases
Nonprofit organization dedicated to accelerating biotech innovation for rare disease treatment through science-driven public policy and community empowerment.
NIH National Center for Advancing Translational Sciences
Part of the National Institutes of Health. Provides free materials and resources for patients, caregivers, patient support organizations, and healthcare providers.
Genetic Alliance
Connects families, health professionals, and communities with genetic conditions. Offers resources on genetic testing, advocacy, and navigating the healthcare system.
Orphanet — European Rare Disease Portal
The largest reference portal for information on rare diseases and orphan drugs. Provides a comprehensive database of rare diseases, clinical trials, and expert centers worldwide.
Rare Diseases Clinical Research Network
NIH-funded network of research consortia studying over 200 rare diseases. Connects patients with clinical studies and provides resources for families navigating rare disease.
CureSearch for Children's Cancer
Funds and supports targeted research to find cures for childhood cancers. Provides family resources, clinical trial information, and support programs.
If you're a family facing a rare disease diagnosis and don't know where to begin, we're here to help. Reach out and we'll guide you through the next steps.