Resources and Information
Undiagnosed Diseases Network (UDN)
https://undiagnosed.hms.harvard.edu
The Undiagnosed Diseases Network (UDN) is a research study funded by the National Institutes of Health that brings together clinical and research experts from across the United States to tackle complex, unsolved medical cases. Using advanced technologies and a collaborative, multi-site approach, the UDN aims to provide answers for patients living with unexplained conditions. In addition to helping individuals and families who have long sought a diagnosis, the UDN contributes to broader scientific knowledge by uncovering new insights into rare and previously unknown diseases, advancing our understanding of how the human body functions.
Rare Diseases Clinical Research Network (RDCRN)
https://www.rarediseasesnetwork.org
The Rare Diseases Clinical Research Network (RDCRN) is a collaborative research initiative funded by the National Institutes of Health to support clinical studies and improve understanding, diagnosis, and treatment of rare diseases. The network is made up of 19 consortia, each focused on at least three related rare conditions, and a Data Management and Coordinating Center (DMCC) that ensures consistent data collection and facilitates information sharing across research teams. The RDCRN emphasizes partnership with patient advocacy groups, bringing together researchers, clinicians, and patients to advance science and care. Currently, the network supports research on nearly 200 rare diseases at multiple sites nationwide, helping accelerate discoveries through shared data, coordinated efforts, and community engagement.
Genetic and Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov
The Genetic and Rare Diseases (GARD) Information Center is a public health resource created to support individuals and families affected by rare diseases. Funded by the National Institutes of Health (NIH) and established through the Rare Diseases Act of 2002, GARD offers free, reliable, and easy-to-understand information in both English and Spanish. With more than an estimated 10,000 rare diseases affecting millions of people in the U.S., GARD helps bridge common challenges such as accessing accurate information, obtaining a diagnosis, and finding support.
GARD gathers data from research databases and translates it into plain-language summaries that include known causes, diagnostic options, and resources for community support. Through its website and Contact Center staffed by knowledgeable Information Specialists, GARD makes the latest scientific research more accessible to the public. As part of the National Center for Advancing Translational Sciences (NCATS) and supported by the National Human Genome Research Institute (NHGRI), GARD plays a key role in translating complex genetic research into actionable information to improve public health—without advertising or commercial endorsements.
National Center for Advancing Translational Sciences (NCATS)
https://ncats.nih.gov/rare-diseases
The National Center for Advancing Translational Sciences (NCATS) is the leading force behind rare disease research at the National Institutes of Health (NIH). With over 10,000 known rare diseases and only a fraction having effective treatments, NCATS focuses on developing innovative approaches that can address multiple diseases at once. Their mission is to accelerate the discovery, development, and delivery of new therapies for rare diseases, improving outcomes for the millions of people affected in the United States. NCATS works collaboratively with patients, advocates, clinicians, and researchers to advance therapeutic tools, launch clinical trials, and increase awareness of rare disease challenges. Key priorities include reducing the time it takes to diagnose a rare condition, developing gene-targeted treatments for groups of related diseases, and using cutting-edge tools like genetic analysis and machine learning to support better care and faster research progress. By tackling the systemic barriers in rare disease research, NCATS is helping to transform scientific discoveries into real-world health solutions.
National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD) is a nonprofit patient advocacy organization dedicated to improving the lives of individuals and families affected by rare diseases. Serving as a national hub for education, support, and policy advocacy, NORD provides trusted medical information, promotes research, and advances access to care for the rare disease community. NORD offers a wide range of free resources, including a comprehensive rare disease database, patient assistance programs, and guidance on navigating medical, financial, and insurance challenges. The organization also connects patients with clinical trials and fosters collaboration among patient organizations, researchers, and policymakers to drive progress in diagnosis, treatment, and support. Through advocacy at the federal and state level, NORD works to raise awareness, influence legislation, and protect the rights of people living with rare diseases. With a mission to ensure that no one facing a rare disease is left alone, NORD plays a critical role in uniting the community and advancing equity in rare disease care and research.