Once you have achieved a diagnosis, it is important to find an experienced healthcare provider with training and expertise in the management and treatment of your disease.
These providers have the most up-to-date knowledge and information about the most effective treatments as well as current research and clinical trials. It sometimes can be challenging to find specialists for rare diseases, especially for people who do not live near major academic medical centers. However, resources are available to help in your search for providers.
Following are resources, including those recommended by the National Institutes of Health (NIH) Genetic and Rare Disease Information Center (GARD) website, for locating a healthcare professional for your disease
Disease Advocacy Organizations
Many of these organization have physician locator services or patient networks that may help you find a healthcare professional who is familiar with your condition. Some may also have a list of doctors recommended by their members. Also, medical advisory boards for these organizations are comprised of experts in the field. Sometimes, disease advocacy organizations establish Centers of Excellence for their condition; contact a support organization to determine if they are familiar with a Center of Excellence.
• To find disease advocacy organizations, the NORD website provides a library of information for more than 1,200 rare diseases, including national and international advocacy and research organizations for each disease.
• Also, the National Institutes of Health (NIH) Genetic and Rare Disease Information Center (GARD) website contains an easy-to-use search tool that lists national and international advocacy organizations for specific diseases
• The Genetic Alliance website also contains a list of advocacy and patient organizations for specific diseases.
Major Teaching Hospitals and Academic Health Centers
These institutions are often located in larger cities and metropolitan areas. They are more likely to have medical staff with expertise in the treatment and management of rare diseases and physicians involved in clinical trials.
Clinical Genetics Centers
Genetics professionals can be a valuable source of information for people with rare diseases and their families. The following organizations and websites are good sources of information:
The American College of Medical Genetics and Genomics – Features a Genetics Clinics Database to assist with locating a U.S. genetics center. LEARN MORE.
The American Society of Human Genetics (ASHG) – Professional organization of research and clinical geneticists that maintains a database of its members, some of whom live outside the U.S. Some geneticists listed may be researchers only and may not offer medical care. LEARN MORE.
The National Society of Genetic Counselors – Features a database of genetics counseling services that are searchable by location, name, institution, type of practice, or specialty. LEARN MORE.
MEDLINEPlus – Website maintained by the U.S. National Library of Medicine that provides a link to various websites and directories to assist in finding health professionals, services, and facilities. LEARN MORE.
Medical Researchers
These professionals can be a helpful source for identifying an expert for a specific disease. Frequently, researchers conducting clinical trials are medical doctors who may also see patients who are not enrolled in a study. These physicians may also provide a referral to a colleague who sees patients for a specific disease.
The following organizations and websites are useful in locating medical researchers who may be helpful:
The Rare Diseases Clinical Research Network (RDCRN) comprises 22 distinctive consortia working to improve the availability of rare disease information, treatment, clinical studies, and general awareness for patients and the medical community. The RDCRN is focused on providing up-to-date information for patients and connecting them with advocacy groups, expert doctors, and clinical research opportunities. LEARN MORE.
The Centers for Mendelian Genomics is a research program that focuses on discovering causes of rare genetic disorders. LEARN MORE.
ClinicalTrials.gov is a website that was developed by the U.S. National Institutes of Health (NIH) through the National Library of Medicine. The purpose of the site is to provide clinicians, patients, family members, and the public with current information on clinical research studies in the U.S. This resource may be helpful in locating researchers who are studying a specific condition. A basic search can be conducted using the condition name as the search term; click on a study to review the eligibility criteria and obtain the study’s contact information. LEARN MORE.
The Patient Recruitment and Public Liaison (PRPL) Office at the NIH provides information about opportunities to participate in research conducted at the NIH Clinical Center Hospital. You may call the PRPL office toll-free at 1-800-411-1222 or send an email to prpl@mail.cc.nih.gov to ask about clinical trials being conducted for a specific disease and contact information for research involved in these trials.
