Due to the nature of rare diseases, it can be challenging to find published information. Here are 10 online resources that might be helpful for medical writers researching rare diseases.
Today, February 29th, is rare disease awareness day. The world started celebrating this day back in 2008 but it wasn’t until February 2014 that we saw online interest in rare diseases truly take off.
Rare Disease Online Search Interest
The Google Trend charts below show the search interest over time* for the term “rare disease” over the past 16 years in both the United States and in Canada. You will notice that there is a peak of interest for each month of February starting as of 2014 (Rare Disease Awareness Day is always on the last day of February), and this interest trend continues to grow.
Rare Disease Medical Writers Make a Difference
I was fortunate to have been involved in the medical writing and approval process for several rare disease promotional campaigns over the past few years. These were fascinating projects because of the complexity of the diseases which often involved multiple organs. However, the research can be tedious due to the nature of rare diseases as there is little evidence that has been published.
Let’s put this into real-life perspective for all parties involved. We, as medical writers, are given a topic. We know what to research. The research may be challenging, but we know that we are on the right track. Now put yourself in the physician and patient’s shoes. They don’t know what they are looking for. Rare diseases are not typically top of mind for the majority of patients because they are just as the name says, rare. Plus, you need to rule out multiple common ailments before you reach a rare disease diagnosis. It must feel like searching for a pin in a haystack. Imagine the frustration and the desperation on behalf of both the patient and the healthcare professional. I have the utmost respect for those brave patients and persevering physicians.
If any of my healthcare write-ups about rare diseases have helped move the diagnosis process along a bit faster or has made the physician more confident in his therapeutic decisions, that would be the best reward possible.
The most gratifying part about writing about rare diseases is that you are providing information that may help physicians recognize that patient who is still without diagnosis despite so much suffering. It can take years for a rare disease patient to get a diagnosis and treatment that is appropriate for them, so anything that we can do to shorten that time is well worth it.
10 Online Resources for Rare Diseases
Here are 10 online sources that you might find helpful if you have exhausted your PubMed search. Some of these may have already appeared in your PubMed search but I included them just in case. Also, you will most likely have a specific rare disease to write about, which will allow you to narrow your search and find resources that are more ideal for your needs:
- Prevalence of rare diseases by alphabetical order
- Canadian Organization for Rare Diseases (CORD)
- NIH Genetic and Rare Diseases (GARD) Information Center
- NIH National Human Genome Research Institute
- National Organization for Rare Diseases (NORD)
- Orphanet Journal of Rare Diseases (open access, peer reviewed)
- Journal of Rare Diseases Research and Treatment (open access, peer reviewed)
- American Journal of Rare Disorders; Diagnosis and Therapy (open access, peer reviewed)
- International Journal of Rare Diseases and Disorders (open access, peer reviewed)
- Google Scholar articles on rare diseases
If I find more resources, I will add them to this list. Let me know if you are aware of other rare disease resources that should be included in this list.
If you require assistance with your medical writing, please contact me at firstname.lastname@example.org .
*Definition of “Interest over time” in Google Trends: Numbers represent search interest relative to the highest point on the chart for the given region and time. A value of 100 is the peak popularity for the term. A value of 50 means that the term is half as popular. A score of 0 means that there was not enough data for this term.