What are Neural Tube Defects?

Neural Tube Defects are severe congenital disorders. They happen in early embryos when primary neurulation stalls. The process of primary neurulation turns a flat layer of cells on the back of the embryo into a closed neural tube, which then forms the central nervous system. By “closing”, the neural tube gets covered by cells which eventually become the skin.

The (mouse) fetus below has two different Neural Tube Defects. Its neural tube has remained open in the future head, producing exencephaly (also called anencephaly, highlighted in magenta), and in the spinal region, causing spina bifida (cyan). Both these defects were caused by the same genetic mutation in future skin cells.

Unexpectedly, this fetus also has an abnormally-formed eye – that’s the tiny, black pin-prick in the middle of its head which is normally much bigger. We did not know the specific mutation this fetus has would cause defects in the eye, but that’s how new findings are made!