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 ...

It impacts roughly 1 in 300 Americans — and puts people at a higher risk of developing cancer before age 50.

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function.

A child who feels tired often, has repeated hospital visits, or unexplained pain may point to conditions like Sickle Cell ...

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 ...

In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – something previously believed to be the result of several mutations working ...

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 ...