Build Relationships With Key Partners

With Academic Researchers and Clinicians

Most groups start their multidisciplinary team by seeking out academic researchers and clinicians who are focused on their disease or related diseases. For some groups, finding a few interested researchers and clinicians is not that difficult and the group is quickly able to form a scientific/medical advisory board. But for many, especially rare disease groups, it is not only a very challenging first step, but a continuous challenge. Furthermore, it is not necessarily best practice to rely solely on your scientific/medical advisory board for the research needed for therapy development. Although there is no single method, patient group leaders who have successfully found researchers and clinicians suggest utilizing: 

  • PubMed: You can find published medical and research articles on your disease (or associated gene or protein, if known) through PubMed, a searchable database of published medical articles provided by the NIH National Library of Medicine (NLM). Although not all of the articles are available for free online, most articles listed in PubMed have a summary (abstract) available. 
    • Using “your disease” (or associated gene or protein) as your search term should help you locate articles. 
      • Try using the disease term with and without quotation marks.
      • Replace the disease term with any synonyms if you are only finding a limited number of articles. 
      • Add terms such as “etiology” (disease cause), “pathology” (disease process) or “treatment” to the main search term or use the advanced search feature to narrow your search results. 
        • You can join any added terms to the disease term or each other using “AND” between the terms. This will limit your search results to articles that contain all the listed terms.
      • If you can’t find any researchers for your rare disease, substitute a more common disease name that may have similar symptoms, cause, or disease process as the main search term. This method may locate researchers who have the experience, knowledge, and possibly interest to include your disease in their research efforts.
      • If there is no summary available or you would like to read the full article before reaching out to the authors, the NLM can help you find libraries in your area where you can get the full text of medical articles. You can search for libraries at National Network of Libraries of Medicine Members Directory . Or you can contact the NLM toll-free at 1-888-346-3656.
      • You can set up email alerts to be notified if new articles are published in a specific search area by simply clicking “Create alert” under the search bar above the listed search results. If you don’t have an account with the NLM, the system will walk you through the process. Setting up an account is easy and free.
        • The NIH Library provides a bit more information, including a short video, if you need some help to set up or manage your PubMed alerts: Creating Alerts: PubMed
        • You can choose the frequency you will receive alerts and modify the search in the future.
      • PubMed Help provides answers to frequently asked questions and links to other tips that can help improve your search strategies and locate full text articles if one is not freely available. This resource is frequently updated by NLM.
    • Contact information for at least one of the authors of articles found through PubMed is often available. Just click on the title in the search list to take you to the abstract or summary view of the article. The contact information can be found by clicking the “+ expand” next to “Affiliations” just below the list of authors.
      • On case reports or case series, the first author may be a medical resident or fellow, and therefore you may want to try to find the contact information for the last author who is usually the most senior author. 
        • However, it can be helpful to find a medical resident or medical fellow who is just starting their career and may be interested in focusing on your rare disease. A quick internet search usually can help you determine if they continued to specialize in a relevant field and are focused on clinical medicine, research, or both.
      • Similarly, the first authors listed in research studies may be graduate students or postdoctoral fellows, but determining this is more complex. Sometimes when several labs or doctors work together, a senior researcher’s name is listed first. In some cases, most or all of the authors are senior researchers. 
        • Again, finding a graduate student or postdoctoral fellow who may be interested in making your disease one of the first focuses of their career can be helpful, especially if none of the established researchers or clinicians are interested in doing so. 
      • If the researcher or clinician you wish to contact does not have contact information provided, you can often find contact information by searching the researcher or clinicians name on the internet. 
        • Include MD, PhD or other professional title with the author name.
        • Add the university research or medical center, if needed.
        • Including “email address” after the doctor’s name can also be helpful.  
    • Encouraging Research Through Personal Connections, Section 3 (pages 7 to 10) of the Global Genes Toolkit on “From Molecules to Medicines: How Patients Can Share Their Voices Throughout the Drug Development Process ” includes tips for using PubMed to find researchers and suggestions for reaching out to those you find.
  • Medical professional information resources: The authors of the information on certain medical professional information websites may be specialists. For example, you may consider reaching out to the authors of a report on your disease or related or similar disease published on:
    • GeneReviews usually provides email addresses for all authors.
    • NORD Rare Diseases Information only lists the reviewing author, but contact information can be found with an internet search. Older NORD reports may not list the reviewing author.
    • UpToDate does not provide contact information, but, again, contact information can usually be found easily with an internet search. 
  • The Research Portfolio Online Reporting Tool (RePORTER) is a searchable database of NIH supported research. Although these projects may not conduct studies on humans, this resource can be especially helpful if you are looking for researchers focused on research understanding cause and pathways, discovery of possible targets or translational research tools, and the preclinical trial phase of the therapy development pathway. 
    • To search for studies, enter the disease name (or associated gene or protein) in the “Text Search” box and click “Submit Query”.
  • Clinical trials: There are several online search tools to help you search for clinical trials. Contact information is usually included for the Primary Investigator (PI) of the trial. You can search for studies using: 
    • which was developed by NIH through the National Library of Medicine to provide the public with current information on clinical research studies. Try using the disease or associated disease or protein name. You can narrow studies to the United States and even some specific states, as well as limiting your search to active or completed trials .
    • CenterWatch which is a Clinical Trial Listing Service which provides a list of Institutional Review Board (IRB)-approved clinical trials being conducted internationally. The site is designed to be a resource for patients interested in participating in clinical trials and for research professionals. 
  • University medical centers: Search the relevant specialty departments at university or tertiary care medical centers (or associated pediatric center, if your disease affects children) for specialists who have the knowledge and skill to become specialists in your disease.
    • Physician profiles often don’t list a rare disease a doctor may have experience treating, so can be most helpful to search for similar, more common diseases or the symptoms associated with your disease that are complicated to treat.
    • Many rare and complex diseases affect more than one body system and therefore might fall under more than one specialty, so you may wish to try several different departments.
    • If your disease is genetic, you may try reaching out to a genetic counselor in the medical genetics department of a university medical center to see if they have any recommendations.
    • Major university and tertiary care medical centers often have nurses available to help callers find the right specialist within their center. Although many times the nurse will have difficulties with rare diseases, sometimes they are able to help you find a specialist. 
  • Rare Disease Clinical Research Network (RDCRN) : If your disease has similarities to any of the diseases covered by the currently funded Consortia in the RCRNs, you may wish to reach out to one or more of the PIs.
    • Consortia include researchers, clinicians, and patient groups. 
    • The goal is to work to better understand rare diseases and move potential treatments closer to the clinic.
    • Each Consortia includes several diseases that may be related by body system affected, genetic change, disease process, or similar symptoms (phenotype). 
    • The Consortia list participating university and tertiary care medical centers and the PIs at each center. 
    • Although it is not easy for a disease focus to be added to an existing RDCRN, the PIs at the participating centers may have experience with your disease or know of a colleague who does or would be interested in focusing on your disease.
    • The RDCRN is supported by the Office of Rare Disease Research (ORDR)/National Center for Advancing Translational Science (NCATS) and collaborating institutes and centers.
  • Medical professional society conferences: Exhibiting at medical professional society conferences can not only raise awareness among the specialists at the conference, but can also attract young medical residents and fellows who are just starting out in this specialty and are looking for their niche. 
    • If members of your medical board are willing to train with residents, fellows, or interested specialists, you can facilitate the connection. 
  • Offer grants: If you already have scientific or medical advisors that can help you evaluate grant applications, you may consider offering one or more grants with specific areas of focus as a way to help you find or develop researchers in that area. 
  • Hold scientific conferences: As you begin to identify researchers already working on your disease or closely related diseases, you may be able to find or attract others through holding scientific conferences. 


With Academic Researchers and Clinicians
PubMed National Library of Medicine (NLM) (link)
GeneReviews National Library of Medicine (NLM) (link)
NORD Rare Disease Information National Organization for Rare Disorders (NORD) (link)
UpToDate Wolters Kluwer (link)
Research Portfolio Online Reporting Tool (RePORTER) National Institutes of Health (NIH) (link) National Library of Medicine (NLM) (link)
Find a Genetic Counselor National Society of Genetic Counselors (NSGC) (link)
Find a Genetics Clinic American Medical College of Genetics and Genomics (AMCG) (link)
Rare Diseases Clinical Research Network (RDCRN National Center for Advancing Translational Sciences (NCATS) (link)
With Government
FDA For Patients Website U. S. Food and Drug Administration (FDA) (link)
Learn About FDA Patient Engagement U. S. Food and Drug Administration (FDA) (link)
Developing Products for Rare Diseases & Conditions U. S. Food and Drug Administration (FDA) (link)
FDA Patient Affairs U. S. Food and Drug Administration (FDA) (link)
Working with Regulators: A Focus on the FDA Cancer Policy Institute at the Cancer Support Community (link)
List of NIH Institutes, Centers, and Offices National Institutes of Health (NIH) (link)
Find NIH Clinical Center Trials National Institutes of Health (NIH) (link)
NCATS Patient/Community Engagement & Health Information National Center for Advancing Translational Sciences (NCATS) (link)
Tips for Success
Best Practices for Effective Patient Group Engagement Clinical Trials Transformation Initiative (CTTI) (link)