A newly identified recessive neurodevelopmental disorder (NDD) linked to variants in the RNU2-2 gene may be among the most common genetic causes of intellectual disability and epilepsy, new research ...

Many human diseases have a genetic component to them. There are over 6,000 genetic disorders, many of which are fatal or severely debilitating. A genetic disease is caused by a mutation in DNA and can ...

Psychiatric disorders often overlap and can make diagnosis difficult. Depression and anxiety, for example, can coexist and share symptoms. Schizophrenia and anorexia nervosa. Autism and attention ...

New research bolsters the idea that the risk for psychiatric and developmental disorders isn’t specific to particular conditions — and that could mean new opportunities to treat mental illnesses that ...

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial ...

An experimental gene-silencing therapy safely lowered LRRK2 protein levels in an early Parkinson’s trial, but its effect on ...

Researchers at WashU Medicine and collaborating institutions have developed a novel computational tool that can accurately ...

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 ...