An editor in his early 40s thought the tiny numb spot on his nose was innocuous. A year and six doctors later, he learned it ...

They have Prader-Willi syndrome (PWS) - a rare neurodevelopmental and genetic condition where the "switch" in the brain that signals fullness never gets flipped on. PWS occurs when part of the ...

A pea-sized spot on Ben Murray's nose unraveled a rare sweat gland cancer diagnosis. While he dismissed the spot as harmless, ...

Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood, about 95% lack approved treatments, and the average time for an accurate diagnosis is 4·8 years. In the past ...

7.“A few months after getting H1N1 flu, I started sleeping for very long periods of time (up to 20 hours, sometimes two days ...

R obert F. Kennedy, Jr., President Trump’s nominee to lead the U.S. Department of Health and Human Services, speaks with a ...

If you're anywhere near Medicare sign-up time, even years away, the time to start thinking about all of this is now.

As Rare Disease day 2020 approaches, we take a look at the biggest challenges facing orphan drug developers and ask whether the future is bright or bleak for these difficult conditions.

My name is Dr Karishma Patel and I am a GP with an ultra-rare genetic condition called Familial Chylomicronaemia Syndrome (FCS). I was diagnosed with FCS at birth. On the newborn heel prick test ...