Orphanet

Orphanet is a comprehensive online database dedicated to information on rare diseases and orphan drugs. It was established in 1997 by the French National Institute of Health and Medical Research (INSERM) and has since grown to become a key resource for healthcare professionals, researchers, and patients seeking information on rare medical conditions.

Overview

Orphanet provides detailed information on a wide range of rare diseases, which are defined as conditions affecting fewer than 1 in 2,000 people. The database includes descriptions of diseases, information on diagnostic tests, and details about ongoing research and clinical trials. It also offers a directory of specialized services, including expert centers, medical laboratories, and patient organizations.

History

Orphanet was created in response to the need for a centralized source of information on rare diseases and orphan drugs. The project was initiated by INSERM and has received support from various European Union programs. Over the years, Orphanet has expanded its reach and now includes contributions from numerous countries worldwide.

Features

Orphanet offers several key features:

• Disease Information: Detailed descriptions of rare diseases, including symptoms, genetic information, and treatment options.
• Orphan Drugs: Information on drugs developed specifically for the treatment of rare diseases.
• Research and Clinical Trials: Updates on ongoing research projects and clinical trials related to rare diseases.
• Expert Directory: A directory of healthcare professionals and institutions specializing in rare diseases.
• Patient Organizations: Information on organizations that provide support and advocacy for patients with rare diseases.

Collaborations

Orphanet collaborates with various international organizations and research networks to ensure the accuracy and comprehensiveness of its database. These collaborations help to facilitate the sharing of knowledge and resources among the global rare disease community.

Access and Usage

Orphanet is freely accessible to the public and can be used by healthcare professionals, researchers, and patients. The database is available in multiple languages, making it a valuable resource for a diverse audience.

See Also

• Rare disease
• Orphan drug
• INSERM
• Clinical trial
• Patient advocacy