Rare diseases are often not well known or understood.¹ There may not be much high-quality information available about some rare conditions. There is also a higher chance of finding information that is inaccurate, unclear, or out of date.  

Below is a list of ways to find trustworthy rare disease information. 

• Your medical team can help you find out more about your rare disease. They can explain any medical language and answer questions you may have. They can also help you to find and understand other credible sources of information.  

• The RARE Portal: Rare Disease Directory has rare disease information for the Australian context. If your rare disease is not listed in the directory, you can request for it to be added through the Contribute form.  

• Healthdirect Australia has information that may be relevant for some rare diseases.  

International rare disease-specific resources:

• Genetic and Rare Diseases (GARD) Information Center (United States of America) provides easy-to-understand information about genetic and rare diseases.  

• The National Organization for Rare Diseases (NORD) Rare Disease Database (United States of America) has detailed reports on individual rare diseases.   

• Orphanet is a European consortium of rare disease information.  

It’s important to remember that not everything you find on the internet is true, proven, or up to date. Using search engines like Google, artificial intelligence (AI) tools like ChatGPT, social media or blogs can sometimes lead you to incorrect information. The safest option is to rely on trustworthy, evidence-based sources. Here are some things to keep in mind:^1-3 

• Not all information is written by experts with appropriate knowledge or background. Some information may come from people who are not trusted experts. Information may not be evidence-based. It may be based on personal and biased views, motives, rumours, and not based on real facts or evidence.  

• Rare disease information can be limited. For many rare conditions, the information available may come from only a few people. People with the same rare disease can have very different symptoms, so what is true for one person may not be true for others.  

• Medical language can be confusing. Sometimes medical information is simplified to make it easier to read. This can change the meaning or cause people to misunderstand it.  

• AI tools are not perfect. Tools like ChatGPT can make mistakes. They might use unreliable sources, and summarise things incorrectly. They can sometimes even create information that isn’t real. 

The Australian Commission on Safety and Quality in Health Care has some top tips for finding good health information online. 

Asking your medical team is usually the best way to find out if information is reliable.

1. Chaudhary, A., & Kumar, V. Rare diseases: A comprehensive literature review and future directions. J. Rare Dis. 2025; 4, 33. https://doi.org/10.1007/s44162-025-00099-6 
2. Denniss, E., & Lindberg, R. (2025). Social media and the spread of misinformation: Infectious and a threat to public health. Health Promotion International, 40(2), daaf023. https://doi.org/10.1093/heapro/daaf023
3. Omar, M., Sorin, V., Collins, J.D. et al. Multi-model assurance analysis showing large language models are highly vulnerable to adversarial hallucination attacks during clinical decision support. Commun. Med. 2025; 5, 330. https://doi.org/10.1038/s43856-025-01021-3