Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, the guidelines below include several ways to identify healthcare professionals who have experience with a particular condition. Potential resources include patient advocacy groups, researchers who have conducted or are conducting clinical trials, and authors of articles published in the medical literature.
We are providing these resources to assist you in your search; however, sometimes it will not be possible to find a healthcare professional who has extensive experience in a particular rare condition. At the bottom of this fact sheet, we have provided some suggestions to help you when you are still unable to locate an expert after researching these resources.
The GARD Information Center provides these resources for informational purposes only and not as an endorsement of services. You should use your own judgment when evaluating a healthcare professional. You can find helpful information on choosing quality health care from the Agency for Healthcare Research and Quality (AHRQ).
How can I find a:
✽ Healthcare professional with experience in a specific condition?
✽ Specialty treatment center?
✽ Genetics clinic?
✽ Researcher who is studying my condition?
✽ What if I can’t find an expert?
✽ How can I find a healthcare professional with experience in a specific condition?
Several resources may be able to assist in your search for a healthcare professional with experience in a particular condition:
✽ Many disease advocacy organizations have medical advisory boards, physician locator services, or patient networks, all of which may help you find a healthcare professional who is familiar with a particular condition. You can search for a condition on this website to find related disease advocacy organizations. These would be located in the “Organizations” section. If you don’t find a specific group, search the Genetic Alliance and the National Organization for Rare Disorders (NORD) websites.
✽ Published resources provide another way to find a specialist for a particular condition. Experts are often called upon to contribute to online publications such as GeneReviews, NORD, and Medscape Reference. Many of these resources list the author’s name and institution and may provide an e-mail address or phone number.
✽ You can also search the medical literature to find healthcare professionals or researchers who have published recent articles or case reports on a particular condition. You can find relevant articles through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available online for free, most articles listed in PubMed have a summary/abstract available. In addition, contact information for one of the authors may be listed. On the Results page, select “Abstract” under Display Settings to view information about the authors.
Source: https://rarediseases.info.nih.gov/guides/pages/25/how-to-find-a-disease-
SG 03.06.01