Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

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 ...

Wondering what really causes borderline PD? New neuroscience discoveries suggest that genetics and brain irregularities may ...

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 ...

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that is thought to have a significant link to ...

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum ...

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 ...

A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following research by scientists and doctors in Manchester. Ava Begley's parents say ...

Estimating that ReNU2 syndrome could account for around 10 percent of recessive neurodevelopmental disorder cases with a ...

Imagine facing a condition so rare that fewer than 100 people in the world are known to have it - a disorder that can disrupt a child's ability to walk, talk or even eat. While there is still much to ...