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, ...

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