Scientist meets patient with Treacher Collins Syndrome

Calcium, the main constituent of bone, turns out to play a major role in regulating the cells that orchestrate bone growth, a finding that could affect treatment for conditions caused by too much collagen deposition, such as fibrosis and excessive scarring, as well as diseases of too little bone growth, such as Treacher Collins Syndrome (TCS).

The finding by Michael Rape and his colleagues at UC Berkeley came from study of the signals that tell undifferentiated stem cells in the very early embryo to mature into bone cells. In the craniofacial disorder TCS, for example, the embryo does not form a structure called the neural crest, from which the jaws, inner ear and numerous other bones in the head and face develop.

As a result, people like Francis Smith, a University of Colorado researcher who visited Rape in his lab a month ago, require dozens of surgeries during childhood to reconstruct the face, implant hearing aids and even reconstruct the trachea to breathe normally.

Cont'd story at: http://news.berkeley.edu/2016/10/06/r...

Rape hopes that basic research to pinpoint the key signals that trigger proper bone growth can help those like Smith avoid such painful surgeries. One option could be the implantation of a biodegradable matrix seeded with bone cells called chondrocytes, which would then be stimulated to release collagen, the blueprint for bone growth. The new findings suggest that stimulating collagen release with calcium would also trigger proper bone growth.

Video by Roxanne Makasdjian and Stephen McNally

Music: "CGI Snake" and "Cylinder Two" by Chris Zabriskie

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