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.
What makes a condition rare?
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans.
How many rare diseases are there?
According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans.
What are examples of rare diseases?
Rare diseases come in many forms and include some cancers, auto-immune diseases, metabolic conditions and inherited malformations….Some examples of rare diseases are:
- cystic fibrosis.
- muscular dystrophy.
- spina bifida.
What is the impact factor of PLOS ONE?
3.24PLOS One / Impact Factor (2020)
How many people have aarskog?
Affected Populations However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the general population. An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
What is the rarest disability?
According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.
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 an 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.
What is the rarest disorder known to man?
Is PLOS ONE a predatory journal?
In some Chinese tertiary teaching hospitals, PLOS ONE is considered as a predatory journal.