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Updated: Jun 28, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[On-line resources in dealing with rare diseases].
L Aldamiz-Echevarría1, Ja Prieto, Ml Couce
1Unidad de Metabolismo, Hospital de Cruces, Baracaldo, 48903, Spain. kaldamiz@hcru.osakidetza.net
Anales Del Sistema Sanitario De Navarra
|November 26, 2008
Summary
Websites are crucial for disseminating knowledge about rare diseases (RDs) to healthcare professionals and patients. This review highlights key national and international online resources for rare disease information.
Area of Science:
- Health Informatics
- Medical Communication
- Rare Disease Research
Background:
- Growing scientific knowledge necessitates effective information dissemination.
- Websites serve as vital tools for transmitting health information.
- Rare diseases (RDs) require specialized communication channels due to low prevalence.
Framework:
- Review of prominent national and international websites focused on rare diseases.
- Categorization of resources by origin (scientific societies, institutions, patient groups).
- Assessment of website utility for healthcare professionals and patients.
Implementation:
- Identification and compilation of key rare disease websites.
- Analysis of content and accessibility of reviewed websites.
- Synthesis of findings to guide users to reliable online information.
Implications:
- Improved access to rare disease information for clinicians and patients.
- Enhanced understanding and management of rare diseases through accessible online resources.
- Facilitation of knowledge sharing and collaboration within the rare disease community.
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