Genetics

Rare disease's mutation could explain more common conditions

TREX1 is a gene that is supposed to direct the maintenance of the entire body's DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a ...

Medical research

Cockayne syndrome: New insights into cellular DNA repair mechanism

Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; growth failure; neurological, ...

Genetics

How the brain develops in unborn babies

A new population-based study led by CHU Sainte-Justine researcher and Université de Montréal medical professor Tomas Paus reveals the roles of maternal and fetal genes in the growth of a baby's cerebral cortex.

Genetics

New tool improves the search for genes that cause diseases

A new statistical tool developed by researchers at the University of Chicago improves the ability to find genetic variants that cause disease. The tool, described in a new paper published January 26, 2024, in Nature Genetics, ...

page 2 from 40