The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, ...

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

A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of ...

Scientists have identified a genetic mutation that helps protect the brain function of animals that live in high-altitude, low-oxygen environments. This mutation has provided new insights into how ...

Can zebrafish help find autism treatments? Scientists used pharmaco-behavioral profiling to identify FDA-approved drugs, like levocarnitine, that reverse autism-related behaviors in zebrafish.

University of Virginia School of Medicine scientists have used a next-generation form of gene editing to fix the underlying cause of a severe form of epilepsy in lab mice.

Scientists have identified a genetic mutation in a gene called SHLP2, which encodes for a microprotein in mitochondria, and can reduce a carrier's likelihood of developing Parkinson's disease by 50 ...

Oestrogen-induced DNA damage drives genomic instability in BRCA1 mutation cells, with dietary compounds showing protective potential.

In a recent study published in Genome Biology, researchers investigate the impact of a novel loss-of-function mutation in the oxidation resistance 1 (OXR1) gene on cellular functions, neurodevelopment ...

A new study from the Massachusetts Institute of Technology suggests that a specific gene mutation prevents patients with ...

The PLN gene mutation causes heart failure and sudden cardiac death. Experts say West Michigan's Dutch community could be ...