Researchers from Children's Hospital of Philadelphia (CHOP) and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world. The study 'Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish' is published in Science Advances today, April 26.
Researchers from Children's Hospital of Philadelphia and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The discovery identified the disorder in 21 families from all over the world.
At CHOP, research scientist Dong Li, Ph.D., identified variants that had not been linked to a particular disorder in families in which multiple patients exhibited the same symptoms. Once those variants of interest had been identified, researchers created azebrafish The researchers showed that decreasing activity of MAP4K4 causes developmental defects in zebrafish, which is what is observed in these patients. Additionally, MAP4K4 activity can restrain signaling in the RAS pathway during embryonic stages, which is why these symptoms were being observed in children.
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