Our new genetic models of aggrecanopathies have arrived……

…..as part of the SYBIL-funded study to functionally validate genetic determinants of skeletal diseases.

In collaboration with the excellent scientists at Polygene we have generated two novel genetic models of SEMD aggrecan type and osteochondritis dissecans respectively (see papers below).

Thompsonstattin 2009

Both of these mutations were published 6 years ago and we still don’t know anything about the underlying disease mechanisms in vivo.

Our approach of using ‘targeted knock-ins’ has generated genomically-relevant in vivo models  that will provide new insight into disease mechanisms for this fast emerging disease group (#6 in the Nosology and classification of genetic skeletal disorders: 2010 revision).

Watch this space!

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