A 41-year-old man presents with severe frontal headache that began suddenly and awakened him from sleep. The headache is associated with nausea, vomiting, and subjective fevers. What's the diagnosis?

Frosted branch angiitis is a rare condition that makes the blood vessels that supply the retina look like the frosted branches of a tree.

Rare diseases affect more than five million people in Thailand, and roughly 80% are caused by changes to DNA. While standard pathways to rare disease diagnosis can take up to seven years ...

Rare diseases affect around 110,000 people in Northern Ireland. At Ulster University, we work with national and international charities, including the Northern Ireland Rare Disease Partnership, with ...

Biotechnology companies face distinct challenges when commercializing products for rare diseases. The usual strategies do not apply when working with small populations of patients, and thus a ...

Rare diseases aren’t as rare as the appellation suggests. For instance, according to the US Government Accountability Office , 30 million Americans have a rare disease, a little less than 10% of ...

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

In some cases the diseases are curable, if caught early. Screening newborn babies for these rare diseases involves sequencing their complete DNA - or genome - using blood samples from their ...

If it hadn't been for a Google search 10 years ago, Ian Stedman may never have discovered he had a rare disease and, most importantly, wouldn't have known how to treat it. Now he hopes the ...