From Bones to Brains

With the help of a mother, one researcher uncovered a common link between autism and a devastating bone disease.

Written byHannah Waters
| 3 min read

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Yu Yamaguchi’s Ext1 knockout mice avoid social interaction, an autism-relevant behavioral phenotype. FUMITOSHI IRIE AND YU YAMAGUCHI

In 2003, glycobiologist Yu Yamaguchi received a phone call that would change the course of his scientific career.

At the time, the Sanford-Burnham Medical Research Institute scientist was studying heparan sulfate (HS), a polysaccharide active in all animal cell types. He scoured the brain for HS and found it concentrated around synapses after they had fully developed.

Yamaguchi was surprised to hear a woman on the other end of the phone identifying herself as a mother. However, Sarah Ziegler isn’t just any mother. When she learned that her son had a rare bone disease called multiple hereditary exostoses (MHE), in which unchecked cell growth forms hundreds of painful though benign tumors in a child’s bones, she founded the MHE Research Foundation to fund scientists working ...

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