New neurodevelopmental syndrome and NKAP gene

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

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Protein associated with many diseases fully visualized for first time

For the first time, researchers have learned at the molecular level how the P2X7 protein receptor – which is associated with inflammation, coronary artery disease, cancer, multiple sclerosis and more – works. The findings could one day inspire new drugs to treat numerous medical conditions.

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