Tip of the Week: Orphanet for Rare Disease information

As I was looking around at some of the links to related resources from the new OMIM site, I noticed that there were links to Orphanet. I’ve heard of Orphanet before–according to their information they’ve been around since 1997, but hadn’t looked at it closely. So for this week’s Tip of the Week we’ll explore Orphanet.

I began to explore at the main landing page, http://www.orpha.net/. From the landing page you can access a wide range of search types and data collections. A tabbed navigation area near the top offers entry points from numerous perspectives: Rare diseases, Orphan drugs, Expert centers, Diagnostic tests, Research and trials, Patient organizations, a directory, and more. It is a nicely organized portal for information about rare diseases.

In the movie tip I won’t have time to go into all of these components, I encourage you to look around yourself. I’ll be focusing on a search for a rare disease, and looking at the features available on that page. At the time if this writing, there are nearly 6000 rare diseases recorded with information that are stored at the site (5954).

One feature I really liked was recently added–Clinical Utility Gene Cards (CUGCs). One of the things about the wild west of DNA testing that we now find ourselves in is that sometimes the utility of the testing isn’t apparent. In the case of these diseases, utility is important, and they offer guidance on the testing from these pages. And it describes many aspects of the utility–they are a nice general model for considering how useful a test might be, I think, and evaluating what testing will really offer people. As an example, check out this one for Huntington’s disease (PDF).

I like to provide a reference for the resources we explore, but I was unable to locate one about Orphanet. However, you can explore their Help section to learn about how to use the site, and about their mission and funding sources. One thing they reference there is their relationship with EuroGenTest, a site that reminded me of the GeneTests resource at NCBI. Performing a search for a testing lab at EuroGenTest takes you back to Orphanet anyway, using the Diagnostic tests search.

Quick links:

Orphanet: http://www.orpha.net

EuroGenTest: http://www.eurogentest.org/

GeneTests at NCBI: http://www.ncbi.nlm.nih.gov/sites/GeneTests