Coryssa Barnes, of Henderson, N.C., welcomed her first child, Ezra, in 2020. At four months old, he was unable to sit without ...

Rare Disease Day is observed on February 29, to raise awareness and advocate for access to better information and treatments ...

In medicine, “rare” is often used to describe conditions that affect relatively few people. But when you work in healthcare ...

Under a scientific, ethical and transparent approach, stem cell banking is a considerate move towards sustainability.

This week’s Capitol Hill meetings come on the heels of rejections of ultra-rare disease drugs developed by Biohaven and Saol ...

Note: Some submissions are from this Reddit thread. 1. "Pentalogy of Cantrell, which is when the heart is outside of the chest because the sternum has not fused. I'd seen it before with just a bit of ...

Did you know there's a medical condition that can lead to you getting drunk from eating bread? And that some people get terrible hives from water? Watch this video on YouTube Let's explore some ...

Rare disease researchers have long known that viewing each patient as a source of insight rather than a single data point is ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

Rare lung diseases affect people nationwide, yet many patients go undiagnosed or misdiagnosed for years. One rare lung disease that illustrates the challenges of timely diagnosis is autoimmune pulmona ...

Rare Disease Day is held on the last day of February to raise awareness for rare diseases and address drug development ...

There are currently no available treatment options for more than 90% of the approximately 7,000 rare diseases identified to date. However, if these conditions result from correctable cellular or ...