What is the meaning of orphanet?
Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases.
What is considered ultra rare disease?
The charity defines patients with ultra-rare diseases as having a mutation unique to them (an N of 1) or having a mutation that has been identified as causing disease in fewer than 30 patients worldwide and is therefore out of the reach of traditional commercial drug programs.
How many rare diseases are there orphanet?
It includes an encyclopedia of rare diseases covering more than 1,300 diseases which is expert-authored and peer-reviewed, and a directory of services in Europe, including information on specialized clinics, clinical laboratories, ongoing research projects, clinical trials, registries, and support groups.
What is considered an orphan disease?
An orphan disease is defined as a condition that affects fewer than 200,000 people nationwide.
Is Orphanet a reliable source?
This initiative became a European endeavour from 2000, supported by grants from the European Commission: Orphanet has gradually grown to a network of 41 countries, within Europe and across the globe. Over the past 20 years, Orphanet has become the reference source of information on rare diseases.
What are examples of rare diseases?
Examples of rare diseases
- cystic fibrosis.
- muscular dystrophy.
- spina bifida.
- haemophilia.
How would you describe a rare disease?
In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. This definition was created by Congress in the Orphan Drug Act of 1983.
Is orphanet Journal of rare diseases peer reviewed?
Aims and scope Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases.