Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

A single microscopic change in our DNA can permanently alter how the brain is built, locking in developmental problems that ...

Scientists have revealed parts of the genome that are especially vulnerable to mutations that occur very early on in development. These areas are in the initial portions of genes, where the cell tends ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

Researchers identified a new genetic mutation that may allow some people to survive, even thrive, on three hours of sleep. The mutation is called SIK3-N783Y. Scientists said mice test subjects ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.