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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New mechanism controlling DNA repair identified

Deoxyribonucleic acid (DNA), is the macromolecule that holds all hereditary and genetic information. Continuously under assault, alterations and damage to DNA can lead to many different health issues, including cancer. DNA is highly regulated within cells, where multiple mechanisms are at play to repair and protect its integrity. Scientists are still investigating these mechanisms to fully comprehend how these DNA repair processes are managed. Researchers recently identified a new mechanism that controls DNA repair.

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Researchers create new viral vector for improved gene therapy in sickle cell disease

Researchers have developed a new and improved viral vector — a virus-based vehicle that delivers therapeutic genes — for use in gene therapy for sickle cell disease. In advanced lab tests using animal models, the new vector was up to 10 times more efficient at incorporating corrective genes into bone marrow stem cells than the conventional vectors currently used, and it had a carrying capacity of up to six times higher, the researchers report.

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