For two scientist parents in Buffalo, their daughter’s rare FOXG1 syndrome diagnosis led them to groundbreaking research, helping launch a gene therapy now headed to a clinical trial.

Scientists have zeroed in on a critical weak spot behind a rare but devastating brain autoimmune disorder often known as ...

Neuroscience rarely enjoys clean experiments. Most brain disorders are mosaics of risk genes, aging, lifestyle and chance that leave their origins obscured. Huntington's disease (HD) is different. It ...

Researchers at the Sanford Stem Cell Institute have taken the fight against rare diseases to the lab, to patients’ bedsides ...

A girl diagnosed with a rare brain disease after suddenly becoming unresponsive at home has been "fighting like hell", her dad has said. Four-year-old Sienna Dunion was rushed to hospital two days ...

Attention has turned to progressive supranuclear palsy, a rare neurodegenerative disorder. Here's what it is and why it's often mistaken for Parkinson’s disease.

WAPPAPELLO, Mo. (KFVS) - “Very deadly, but very rare,” that’s how an infectious disease expert describes a brain-eating infection case in the state of Missouri. Missouri Department of Health and ...

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare diseases.