Genetics

Study finds crucial step in DNA repair

Scientists at Washington State University have identified a crucial step in DNA repair that could lead to targeted gene therapy for hereditary diseases such as "children of the moon" and a common form of colon cancer.

Genetics

Study uncovers hidden DNA mechanisms of rare genetic diseases

Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a discovery that could significantly advance our understanding of genomic disorders. Their latest study, published in ...

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, ...

Neuroscience

With fractured genomes, Alzheimer's neurons call for help

A new study by researchers in The Picower Institute for Learning and Memory at MIT provides evidence from both mouse models and postmortem human tissue of a direct link between two problems that emerge in Alzheimer's disease: ...

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