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 with variable body fat loss (lipodystrophy), fatty ...

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

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. The findings, recently published in the ...

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 weakness and respiratory failure.

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 its kind ever conducted and published in the journal Nature ,

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 be breathed out of your lungs. Red blood cells are disks ...

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 A&M University and published in Nature, could explain ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient populations.

The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, such as autism, only one may present clinically or they may ...

A pioneering gene therapy could help treat a rare seizure disorder called Dravet syndrome, according to new clinical trial results. The drug, called zorevunersen, holds promise, especially for people with the condition who don’t respond to existing treatments such as antiseizure medications.