A de novo mutation does not eliminate the gene, but probably alters its function.iStock Researchers have discovered 15 genes that play a role in the development of intellectual disabilities.

As a group, carriers of recessive disorders are slightly less healthy and have a reduced chance of having offspring. This disadvantage is greatest for carriers of a recessive gene for intellectual ...

A team of researchers from the University of Aberdeen has uncovered, for the first time, how genes linked to autism and intellectual disability may influence early brain development. Their work helps ...

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and ...

The human brain's remarkably prolonged development is unique among mammals and is thought to contribute to our advanced learning abilities. Disruptions in this process may explain certain ...

Intellectual disabilities are often caused by a mutation that damages a gene, preventing the associated protein from functioning properly. However, a mutation can also change the function of a gene.

A new genetic screening method allows researchers to efficiently modulate individual genes across entire tissues and provides new insights into human development. The research, published in eLife, is ...

Researchers from Radboudumc, Department of Human Genetics, demonstrated something remarkable in a 2014 publication in Nature. Contrary to expectations, inherited variants in genes were rarely ...