Rare ophthalmology diseases

Eye Manifestations of Internal Diseases (Medical Ophthalmology)

Identifying rare events in rare diseases.

Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer Res; 21(8); 1782-5. ©2014 AACR. See related article by Oberthuer e...

Epigenetics in Rare Diseases

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...

[Rare diseases in paediatrics].

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...

Introducing Rare Diseases

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...