Fixing bones that just won’t heal

04 August 2014
Tiana's Story

Tiana’s diagnosis of the congenital disorder neurofibromatosis type 1 (NF1) always made her vulnerable to breaking a bone – but when she fell off a beam at preschool and broke her leg, no-one could have anticipated her long journey to recovery.

One of the characteristics of NF1 is that broken bones just won’t heal:  the disease prevents the cells from releasing the agents they need to grow into new bone. Tiana has undergone multiple operations, months of physiotherapy, wears a leg brace and spent nearly a year with her leg in plaster.

Professor David Little and his team at the Centre for Children's Bone and Musculoskeletal Health are researching the biology of how and why this happens.

By using a combination of drugs, they have shown they can increase the formation of bone and at the same time control bone resorption, or the breaking down of the bone.

They have recently shown in the lab that they can knock out the NF1 genes that are causing the problem, and are hopeful that now they can tailor a specific treatment to children with this condition.

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