Despite decades of exams and tests, Iowa mom Jill Viles diagnosed not one but two ultra-rare diseases plaguing her family.

Rare diseases reveal that our sense of identity rests on fragile biological infrastructure, much of it operating outside ...

Instead of requiring personalized gene edits for each patient, the new approach could create a standardized method to use for ...

As the first human case of H5N5 bird flu is confirmed in the US, here are some frequently asked questions about the disease, ...

The National Institutes of Health awarded more than $8 million to the Kennedy Krieger Institute for researching rare ...

Median net sales for the 19 drugs in 2022 were $1.97 billion (range, $988 million-$8.36 billion). The drugs with the highest net sales were lenalidomide (Revlimid; $8.36 billion), ...

Seles’ first symptoms appeared suddenly around three years ago. She began having double vision and weakness in her arms and ...

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown genetic disease that affects movement and muscle control. The disease—called ...

Charlie Evans, 13, who suffers from severe food allergies and eosinophilic esophagitis (EoE), takes part in an NIH-funded study at Cincinnati Children's hospital. The NIH dismissed the hospital's ...

CRISPR gene editing has now been used to treat a genetic defect in a child, giving hope to parents of children with rare inherited diseases. While hopes are high, clear communication about the ...

When Adam started kindergarten, his teacher could tell he was behind. The other kids could color inside the lines. The other kids could identify red objects. Adam could not. “He was my first child,” ...