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).
GARD Information Specialists developed the following video tutorial to provide tips and resources to help you find a disease specialist.
How to Find a Disease Specialist
How can I find a:
- Healthcare professional with experience in a specific condition?
- Specialty treatment center?
- Genetics clinic?
- Researcher who is studying my condition?
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.
How can I find a specialty treatment center?
Treatment centers often have healthcare professionals of various specialties who work together. The resources listed below may help you locate a treatment center for your condition.
- Disease advocacy organizations often establish Centers of Excellence for their condition(s). Contact a support organization to determine if they know of a Center of Excellence.
- The National Cancer Institute provides information on how to find a doctor or treatment facility if you have cancer (many cancers are rare).
- The Muscular Dystrophy Association (MDA) provides medical services for its members through MDA clinics across the country. These clinics serve people with a range of neuromuscular disorders. Patients can receive medical care for genetic disorders at a discounted cost through the MDA clinics. To learn about accessing these services, contact the MDA toll-free at 1-800-344-4863.
How can I find a genetics clinic?
Genetics clinics are a source of information for individuals and families with a genetic condition. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
- GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
- The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
- The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
- The American Society of Human Genetics (ASHG) is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
How can I find a researcher who is studying my condition?
Researchers who are studying a specific condition are another source for identifying an expert. You may want to look for researchers who are conducting a clinical trial, as they are often medical doctors. In addition to asking for more information on their research, you can also find out if they see patients who are not enrolled in a study. If a researcher does not see patients, you may consider asking if they know a colleague who could help you. Some researchers publish periodic updates on their discoveries, and it may be possible for you to receive the latest information about their research.
- The Rare Diseases Clinical Research Network (RDCRN) is made up of 22 distinctive consortia that are working to improve the availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community. The RDCRN also aims to provide up-to-date information for patients and to assist in connecting patients with advocacy groups, expert doctors, and clinical research opportunities. Visit the RDCRN site to see if your condition is supported by one of the RDCRN consortia.
- The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. This program is collaborating with healthcare professionals and researchers working with individuals who have Mendelian disorders. For more information about the Centers, please visit their website.
- ClinicalTrials.gov was developed by the U.S. National Institutes of Health, through the National Library of Medicine, to provide patients, family members, and members of the public with current information on clinical research studies. Through this resource, you may be able to find researchers who are studying your condition. You can conduct a basic search using the condition name as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study's contact information to learn more. Check this site often for regular updates.
- The Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH) provides information about participating in research being conducted at the NIH Clinical Center hospital. Call the PRPL toll-free at 1-800-411-1222, or send an e-mail to firstname.lastname@example.org, to contact a liaison who can help you determine if there are any open clinical trials that interest you. They may also be able to provide you with contact information for researchers involved in these trials.
- The Genetic Testing Registry lists laboratories offering research genetic testing for many conditions. Much of this research is conducted by physicians and scientists with an interest in a particular disease. To see if there are researchers studying your condition, visit the link above and use the condition name as your search term. Click on the "Research" tab on the results page.
What if I can’t find a disease specialist?
You may want to consider contacting a doctor at a university health center in your area, since university health centers tend to have the latest technology and treatments. University health centers have doctors who are involved in clinical trials and who may work together with others to diagnose and treat patients.
MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides links to directories to help you find health professionals, services and facilities.
If you have further questions, call 1-888-205-2311 to speak with a GARD Information Specialist.