By definition, a rare disease is any condition that affects a small percentage of the population. However, the cutoff number for which a disease is considered as rare varies with different regions. In the United States, the cutoff was fewer than 200,000 people [1] and while in Japan, it was fewer than 50,000 [2]. For Europe, rare diseases are life-threatening or chronically debilitating ones in...

Few areas of paediatric care are as susceptible to the revision of lines of action, and require such professional training, as the care of the child with a rare disease (RD) and his/her family, especially if there are malformations. The lifelong impact, which many RDs entail, make continuous monitoring of the child compulsory, centred both on the evolutionary aspects of the RD and on the family...

There is no single global definition of a rare disease, and for different geographical areas the based on disease occurrence in that population [...]

We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics, including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype correlations, studies using animal models, novel...

Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research on rare diseases may help finding solutions valid also for common c...

This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies, NIH, and the FDA. Our intention is to provide...

In general, rare thyroid diseases can be divided into neoplastic and non-neoplastic. Neoplastic rare thyroid diseases include the following: 1. primary thyroid lymphoma (1-5% all malignant neoplasms of the thyroid; 2:1 000 000 per year); 2. metastases to the thyroid gland (2-3% malignant thyroid neoplasms; 0.5-2.8% in autopsy) from various primary cancers such as breast carcinoma, renal carcino...