We are the Rare Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases Research (ORDR), NCATS. We are made up of 21 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.
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.
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.
Opportunities are at your fingertips! Join the RDCRN Contact Registry to receive information for your disease. You may be invited to join new studies and surveys, as well as receive updates on research findings and new information about your rare disease research group. We encourage patients from the United States and every country to join the RDCRN Contact Registry.
You may also 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.
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.