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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

Although mental disorders have multifactorial causes, genetics can explain some of them, yet this field remains largely unexplored in terms of guiding diagnoses and treatments. In the largest study of ...

Parkinson’s disease is a complex neurodegenerative disorder. The causes are still unclear, but about 10% to 15% of cases are thought to be due to genetic changes, while exposure to certain things in ...

In September, Trump and the FDA commissioner announced the drug was under review to benefit patients with autism. The FDA didn't find evidence of that.

Becky Quick recently spoke about her 9-year-old daughter Kaylie’s private struggle with a rare genetic disorder. In an interview with People, published Thursday, January 8, the 53-year-old co-anchor ...

A pioneering gene therapy could help treat a rare seizure disorder called Dravet syndrome, according to new clinical trial ...

Growth disorders are conditions that cause faster or slower growth than usual. People with these disorders may have unusually sized limbs and body parts or may be taller or shorter than expected.