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.

Read more

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.

Read more

Potential drug to treat heart attacks

Administered within hours of an attack, the potential drug would prevent scarring that can lead to heart failure. For the study, the researcher used a drug that targets a key component of the cellular clock mechanism. The medication disrupts expression of genes that trigger adverse immune responses after a heart attack. When mice were given the drug after a heart attack, they were found to have less inflammation and improved cardiac repair.

Read more