Managing the unpredictable symptoms of indolent systemic mastocytosis prompted a search for answers and community.

This was missed by doctors when she was pregnant with her first son, Nathan, who she gave birth to in 2007, as doctors told ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

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 ...

Rithvik wasn’t dealt an easy hand in life. His first symptom — a distended abdomen — was identified during his birth ...

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 ...

A GoFundMe effort is well on its way to helping a young Belfast man, born with a rare congenital heart disease at birth, who ...

The authors concluded that AATD appears to be a potential cause of preterm birth and fetal growth restriction, among other complications. They recommended routine antenatal screening, particularly for ...

A mum-of-two has a rare disease which means pregnancy could kill her - and has been warned she may die if she has a third ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate ...

This article is the product of a POLITICO Working Group presented by Sanofi and UCB. Of all the obstacles standing in the way of optimal care for rare disease patients and their families, doctors are ...