Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

On World Rare Disease Day, we take a look at Pompe disease - a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen buildup in muscles. It results in progressive muscle ...

A rare genetic disorder discovered by UT Southwestern Medical Center researchers and their colleagues can cause brain damage from dangerously low blood sugar levels and liver damage in infants, along ...

University of Otago – Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children ...

Psychiatric disorders can share common genetic influences, which means parts of DNA can be at the root of more than one mental condition, new research has found. The study, led by researchers at Texas ...

Right now, approximately 20 billion red blood cells are busy traveling through your blood vessels. They are delivering oxygen to all the different tissues in your body and removing carbon dioxide to ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

You can call it a "car wash for a cause" - and it's a cause that is very close to the Pantier Family's heart. Their 8-year-old son, Christopher, is living with SMA, or spinal muscular atrophy. It's a ...

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders ...