Geleophysic dysplasia is a short stature syndrome caused by mutations in ADAMTSL2 or FBN1. By deleting Adamtsl2 in the limb and in tendon, the Hubmacher lab developed a mouse model that has similar musculoskeletal features to patients with geleophysic dysplasia. Surprisingly, these mice also had shorter and wider Achilles tendon prompting the hypothesis that the altered tendon properties could restrict bone elongation. The work is in press in Matrix Biology (IF: 8.13).
“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease. For it has been found in almost all things, that what they contain of useful or of applicable nature, is hardly perceived unless we are deprived of them, or they become deranged in some way.”
-William Harvey (Physician-Scientist), 1578-1657