Roadmap Rare diagnosis Staying Up To Date
Back to roadmapHow to search for information about a rare condition
Searching for accurate and reliable information about a rare disease through online sources can be very time-consuming.
There may be little currently available in terms of specific management or treatments however there are various options for monitoring new information as medical knowledge advances over time. Keeping up to date through a combination of reliable organizations as well as social media platforms can be helpful.
Resources
Guides to help with the process of finding reliable health information
- How to Find Reliable Health Information | Genome NIH
- Evaluating Health Information | MedlinePlus
- Trust or Trash | Genetic Alliance Quality Assessment Toolbox
Government site with options to search for published scientific and medical literature. For copies of full articles, you can contact a medical/university library, contact your local library for interlibrary loan, or order them online. Authors of publications can also be a way to connect to experts in rare conditions.
Create alerts for automatic notification of new publications from a variety of sources.
Search government site by diagnosis for information, disease experts, resources and clinical studies.
List of drugs at all stages of development for a specific rare disease or a group of rare diseases: search by disease or drug name.
Searchable site for sharing health information e.g. signs and symptoms and genetic data e.g. candidate genes (a gene suspected to be disease-causing) and DNA sequence data. Create a personal profile that can be automatically matched and made available to other families, clinicians, and researchers.
Information and Advocacy Groups
Search by rare disease name for information and advocacy organizations or specific signs/symptoms if one is not available. These groups often track the latest research, management, treatments, and personal experiences. Signing up for regular newsletters and attending conferences/webinars can be helpful in accessing information as well as connecting with researchers, health providers and other families.
Search trustworthy rare disease non-profit organizations such as:
- List of Rare Diseases | National Organization for Rare Disorders
- View of Rare | VSOP Netherlands
- What can we do for you | FEDER Spain
- Ultra Rare and Undiagnosed Diseases | AnDDI France
- Rare Disease Helplines | EURORDIS Europe
Examples of information, advocacy and support organizations based on signs/symptoms
Child Neurology Foundation: education and support for children living with neurological conditions and their families.
Immune Deficiency Foundation: resources, education, advocacy and support for those with immunodeficiency as well as providing connections with clinicians and scientists.
The Childrens Heart Foundation: information, treatment, research and support for patients and families affected by congenital heart defects.
Epilepsy Society UK: research, advocacy and support to transform the lives of people with epilepsy.
Suggest a resource: send email to gcwg@udninternational.org