RARE DISEASE RESOURCES & EDUCATION FOR PROVIDERS
Rare diseases, which affect a small percentage of the population, pose unique challenges for healthcare professionals. Due to their low prevalence, these diseases often lack the widespread awareness and research attention given to more common conditions. As a result, healthcare professionals may struggle to find reliable information, appropriate diagnostic tools, and effective treatments for their patients. To bridge this gap, numerous organizations and platforms offer invaluable resources dedicated to rare diseases. Below is a curated list of essential resources that provide comprehensive information, support, and research opportunities for healthcare professionals dealing with rare diseases. These resources encompass databases, clinical research networks, educational materials, and patient advocacy groups, all aimed at enhancing the understanding and management of rare diseases in clinical practice.
A comprehensive resource providing information on rare diseases and orphan drugs. It includes a disease encyclopedia, expert resources, and directories of patient organizations and diagnostic tests.
NORD offers educational materials, patient assistance programs, and research opportunities. They provide a rare disease database and resources for medical professionals.
A service of the National Institutes of Health (NIH) that provides detailed information about genetic and rare diseases for patients, their families, and healthcare providers.
RDCRN facilitates clinical research on rare diseases through collaboration between research consortia and patient advocacy groups
Offers educational resources, toolkits, and webinars for healthcare professionals and patients. They also promote advocacy and research in rare diseases.
Networks of healthcare providers across Europe aimed at improving the care of patients with rare or low-prevalence complex diseases by pooling expertise and resources.
Provides resources and tools to help with the development of therapies for rare diseases, focusing on patient-centered approaches
For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
NHGRI is committed to driving the responsible use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all humans.
Offers guidance on orphan drug development, regulatory information, and resources on rare disease therapies.
Provides awareness materials, educational resources, and information on events related to rare diseases.
A database of privately and publicly funded clinical studies conducted around the world, including those focused on rare diseases.
A database of ICD-10 codes and their resources including PDF’s, video’s, and more.