About Our Research Network

The Rare Diseases Clinical Research Network (RDCRN) is an NIH-funded research network of 23 active consortia or research groups—teams of researchers, patients and clinicians—each focused on a group of rare disorders. The network fosters collaborative research among scientists to better understand how particular rare diseases progress and to develop improved approaches for diagnosis and treatment.

Information for Patients and Families

Our network focuses on clinical research and does not generally support clinical care outside of research activities. View the diseases we currently study and reach out to the indicated consortia or research groups for more information on those diseases.

To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

Who We Are

Established by Congress under the Rare Diseases Act in 2002, RDCRN is an initiative of the Office of Rare Diseases Research (ORDR) at the National Institutes of Health’s (NIH’s) National Center for Advancing Translational Sciences (NCATS). View our network of 23 active consortia or research groups.

Our network, now in its fourth five-year funding cycle, is a partnership with funding and programmatic support provided by Institutes, Centers, and Offices across NIH, including the National Institute of Allergy and Infectious Diseases, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, the National Heart, Lung, and Blood Institute, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health and the Office of Dietary Supplements.

NIH Announces New RDCRN Funding to Bolster Rare Diseases Research Collaborations

The National Institutes of Health (NIH) has awarded approximately $31 million in grants in fiscal year 2019 to 20 teams—including five new groups—of scientists, clinicians, patients, families and patient advocates to study a wide range of rare diseases through the RDCRN. An additional $7 million has been awarded to a separate data coordinating center to support these research efforts. These research teams, called Consortia, will work to better understand rare diseases and move potential treatments closer to the clinic. Please stay tuned as we update this site over the coming months.

Click here to see the full list of awardees.

Bridging The Gap Between Rare Diseases and Research

We are the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). We are made up of 20 disease research groups (Consortia) and a Data Management and Coordinating Center that work together improving the availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community. We study over 190 diseases and were the first to develop a collaborative network of investigators and patient organizations (patient advocacy groups) to support rare diseases research.

What Are Rare Diseases?

How Rare Is Rare?

In the USA, the FDA defines a rare disease as any disease that affects fewer than 200,000 Americans. In Europe, a disease is defined as rare when it affects less than 1 in 2,000. These numbers may seem small, but consider that there are over 6,000 known rare diseases which affect around 25 million people. That is roughly 10% of the U.S. population. It is further estimated that 350 million people suffer from rare diseases worldwide.

What Causes Rare Diseases?

The exact cause of many rare diseases is still unknown, but genetics is thought to be a factor for a majority of these diseases. This means that the cause may be traced back to mutations (changes) in a gene. In some cases, these genetic mutations are passed from one generation to the next. It is possible for a rare disease to be present from birth, even though symptoms may not immediately appear. In cases where the rare disease is not inherited, environmental factors may directly or indirectly have a role.

What Can I Do To Help?

Consider joining a patient organization (patient advocacy group). Patient organizations provide support, resources, and services for patients and families, and actively participate in disease research groups.

We also encourage you to share our website with others who have rare diseases and may be interested in our research. With your help, we can learn more about rare diseases and potential treatment options. Help us grow by following us on Facebook and Twitter.

Our Goal

Rare diseases come with many challenges. Some diseases are not well characterized or defined, recruitment for trials can be difficult, high-quality evidence to guide treatments is scarce, and very few expert centers are available for diagnosis, management, and research.

Our goal is to facilitate clinical research by creating rare diseases research groups to focus on related diseases, sharing the costs of our research infrastructures across the network, establish uniform studies for data collection, and make meaningful large-scale studies possible. We also directly engage with patients and their advocates, and train new investigators in rare diseases research.