Three Tools for Finding an Expert in Your Rare Disease

People who have a rare disease (or a child with a rare disease) know all too well the challenges of finding a health care provider who truly understands their condition. Rare disease diagnoses generally involve multiple physicians. But often, even specialists are unfamiliar with rare diseases or may see only 1 or 2 people a year with your disease.

How do you go about finding an expert who understands your rare disease and can answer your questions? Where can you find more information on your condition to share with the specialist(s) helping with your care? Unlike most diseases, in rare disease, the doctors conducting the clinical trials are usually the leading experts on that rare disease. This is because there may be so little information available on a particular rare condition that anyone studying it becomes a top expert almost by default.

Here are some recommendations from people who have learned how to find the experts and information they need.

Google Scholar

• Use Google to find Google Scholar (a Google search engine that specializes in finding scientific information and publications).

• Search for your condition or disease state by entering the topic in the search bar. Unlike a regular Google search, a Google Scholar search will bring up papers in medical journals as well as research studies listed by the National Institutes of Health (NIH) or other health authorities.

• As you scan the papers that come up, look on the left side under “Articles.” You will see a list of dates. To see the most recent articles, click on “Since 2020.”

• Choose articles that seem to address topics you want to explore, such as diagnosis, treatment, etiology, or course of disease.

• The names of the article’s authors will appear near the top of each article. To get more information about a particular author, click on their name (or choose “Show More” if that is an option). This should reveal the author’s affiliations (the name of their practice or the hospital[s] they work at) and may provide contact information.

• You can often contact the lead author by email. Clicking the envelope icon next to the author’s name will show the author’s email address.

• As you research the topic, you may want to keep a list of doctors and hospitals located near you. Then use regular Google (not Google Scholar) to find the hospitals. You can use the hospital’s search function or their “Find a Doctor” tool to search for a doctor by name. The hospital may have a profile page for the doctor you are looking for listing their interests, experience, and all of their publications in the disease area.

PubMed

• Use Google to search for PubMed (a database of all publications in the NIH Library of Medicine, which contains studies and articles from all over the world).

• Enter the disease or condition you wish to research in the PubMed search bar to pull up articles on the topic.

• As you scan the list of articles, you may notice that the same author names appear on

multiple articles. These may be the top experts in your disease.

• Click on an article to see the authors’ names.

• Below the authors’ names, you will see “Affiliations + expand.” Click on “+ expand” to reveal the names of the hospitals and/or practices where the study authors can be found.

• Follow the same directions given above under Google Scholar to find the hospital’s website and search for the doctor you wish to contact.

NIH Clinical Trial Website

• The NIH clinical trial website (clinicaltrials.gov) lists clinical trials that are being conducted around the world.

• If contact information for a study center or doctor is listed, your inquiry about the study will automatically be emailed to the contact who is listed, and they may follow up with you.

• If the study is listed as “sponsored,” that means the researchers in that study have agreed to be contacted about it. You can fill out a short profile that will be sent to the researcher(s) closest to you. You will then be able to schedule a “virtual visit” to discuss the research the expert is conducting on your disease. You can also ask questions to help you determine whether or not you want to be part of their research and if you might be eligible.

Note: Clinicaltrials.gov is not the easiest website to navigate, and many studies do not list the study centers or the doctors conducting the studies. As an alternative, Know Rare has collected information on all the rare disease studies currently listed on clinicaltrials.gov. If you fill out a profile, our study finder can match you with any relevant clinical studies and put you in touch with the study team. To find a clinical trial, go to the Know Rare home page and click “Find Clinical Studies.”

Finding an expert to connect with can take time. Searching these resources will help you learn more about what’s going on with your disease and who is doing the research that can lead to an effective future treatment.

To find a researcher and clinical studies now, click here.

To see profiles of leading researchers who are conducting some of the clinical studies, click here.

Resources for Finding an Expert

Google Scholar

https://scholar.google.com

A search engine that specializes in finding scientific articles.

Know Rare Clinical Trial Finder

https://knowrare.com

An easy way to find clinical studies that may be appropriate for you.

National Institutes of Health (NIH)

https://clinicaltrials.gov

A database of privately and publicly funded clinical studies being conducted around the world.