Summer McKesson struggled to breathe for years. Doctors told her it was because her blood would not stop clotting – and they couldn’t figure out why.

After a tumultuous journey filled with delays and rejection, the FDA has approved Stealth BioTherapeutics’ treatment for the ultrarare disease Barth syndrome, marking the peptide as the first therapy ...

Also known as the thumb-palm test, the thumb test doesn’t necessarily indicate that someone currently has an aneurysm. Rather ...

Tumor lysis syndrome has evolved and become less predictable with the introduction of new cancer therapies. This review explores risk factors and causes of the syndrome, as well as strategies for ...

Main character syndrome is the perception that your life is a story or a movie where you’re the central character. A term that was born on social media, it’s not a true syndrome or mental disorder.

Cutting-edge gene editing technology could eradicate Down syndrome, according to Japanese scientists. Down syndrome, which causes a range of developmental differences and affects 1 in 700 newborns in ...

One of the priority objectives of research into rare diseases is to develop new treatments, and orphan medicines — which target conditions affecting no more than 5 in 10,000 people in the EU — provide ...

In this episode of Tiny Show and Tell Us, we hear from a listener who has Marfan syndrome and dive into the complexities of the disease. Then we talk about pathogens that eat — or infiltrate! — plant ...

The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue disease which as no cure to date. This disease ...

The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue disease which as no cure to date. This disease ...