Writer's Guide to Government Information

Resources to inject real life detail into your fiction

Archive for the tag “rare diseases”

Rare Diseases and Related Terms (Genetic and Rare Disease Center)

Rare Diseases and Related Terms (Genetic and Rare Disease Center) – http://rarediseases.info.nih.gov/gard/browse-by-first-letter/

Representative questions that can be answered with this resource:

  • What would be unusual about appearance of a patient with Harlequin syndrome?
  • What might be unusual about “the plumbing” of someone with 46, XY disorders of sexual development?
  • How might Peters Anomaly interfere with vision?


Sometimes you want to inflict a character with something special. Not a head injury. Not lung cancer. Not something so ho-hum as cirrhosis.You’d like to give a story character something that no one but him and maybe his family have heard of. You could just make something up, like when Lenier claimed he had “Netter’s Syndrome” in the Babylon 5 episode Convictions. And if the disease is a one-off throwaway, maybe that’s the best choice. But if the disease is going to be an ongoing part of your story, this site can give you lots to work with. It has information on diseases affecting less than 200,000 people in the United States.

The main page allows you to browse by letter of the alphabet, or search by keyword. The keyword search is best if you already have a disease in mind or if you have specific symptoms in mind. If you browse by letter, you may notice that some diseases, like Dancing eyes-dancing feet syndrome appear in bold, while others, such as Degos disease, do not. Bolded entries indicate that the Genetic and Rare Disease Center (GARD) staff have answered a question about that disorder. Otherwise the records should be the same and include the following: description of the disease, sometimes with hyperlinks, a list of alternative names for the discussed condition, References (usually to journal articles).

Each entry will also have a box with the following tabs: more detailed information, NLM Gateway, Services, Scientific Conferences, support groups and clinical trials and research. They will not all be disease specific, but “more detailed information” and support groups usually will be.

It’s pretty much all you need to set up a character with a rare disease and a support system.


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