A rare disease is one that affects fewer than 200,000 people. 
There are more than 7,000 recognized rare diseases, affecting about 30 million people in the United States, according to the National Institute of Health. Diagnosis of a rare disease can take many years and many specialists, and FDA-approved therapies exist for only about 5% of those diagnosed. Below are some governmental and NGO resources for finding information on rare diseases for patients and providers. Please contact Sladen Library with any questions about accessing these resources.
Genetic and Rare Diseases (GARD) Information Center
Provides support for patients and families by providing reliable and understandable information on rare diseases. This is a newly redesigned website and undergoing updates regularly.
Rare Diseases Registry Program (RaDaR)
This site provides the rare diseases community with easily accessible guidance on how to set up and maintain high-quality registries, usually focused on a specific diagnosis or condition. The goal is to enable rare diseases patient organizations to better promote and support patient-focused research.
ALL OF US is a research program from the National Institutes of Health (NIH). It is seeking one million or more people from across the U.S. By doing so, it hopes to one day help speed up medical research. People who join will share information about their health, habits, and what it’s like where they live. By looking for patterns, researchers may learn more about what affects people’s health.
National Center for Advancing Translational Sciences (NCATS)
Rare Diseases Community Resources: Free materials and resources to help patients, caregivers, patient support organizations, health care providers and scientists learn about rare diseases and help advance research on them. You can use the resources below on social media, on web pages, or at meetings, clinics and other places to raise awareness and to connect with the rare diseases community.
Toolkit for Patient-Focused Therapy Development: Educational information, resources, and best practices for collaborating with researchers, industry, and regulators on therapy development. Provides information and resources to help patient groups support the process of developing a treatment or cure for their disease(s). The Toolkit highlights tips and strategies from the collected resources and from presentations by representatives of patient groups, academia, government, and industry at conferences and public meetings, as well as informal conversations with these same stakeholders.
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. This project aims to help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.
Education for medical professionals on rare diseases (including CMEs), online physician guides and information to give to patients, links for applying for research grants, and more.
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