Specifically, several projects have been initiated using the funds from Sticks and Stones’ donation.

1. Testing of a novel combination of drugs to strengthen bone in a mouse model of Osteogenesis Imperfecta.

This study has used the current treatment, bisphosphonates, and tested this alone or in combination with a novel drug treatment, sclerostin antibody. This latter drug was sourced from a major drug company but the entire funding of the study came from Sticks and Stones and otherwise would not have been performed. Early results show that the combination treatment is superior to either alone and restores the bone to that of a normal animal. Further tests of these drugs in a fracture healing scenario are planned.

2. Testing intraosseous injections of Bone Morphogenic Protein in a mouse model of Osteogenesis Imperfecta.

Here we have used novel technology to deliver BMP to the bones through a simple injections. Early indications are that the OI mice bones become thicker, which has translated into increased stregth in the injected lims.

3. Testing the reduction of intracellular stress in OI

With a collaborator in Melbourne we are looking at the use of rapamycin in the treatment of OI mice. This drug reduces intracellular stress and may allow OI osteobleasts to function better.

4. Examination of induced pluripotent stem (iPS) cells from OI patients.

Using the latest technology, stem-like cells can be produced from peripheral blood. Our plan is to differentiate these cells into Osteoblasts and check the performance of these bone cells from individual patients. This may highlight individual variances in treatment which could be helpful beyond our protocol driven approaches.

5. Discovery Breakthrough: Gene repair for Osteogenesis Imperfecta

Current therapies for OI such as bisphosphonates aim to make bigger and thus stronger bones. However, such treatments do not repair the underlying gene mutations, meaning that any new bone is still of poor quality. Researchers at the Centre for Children’s Bone Health are employing a new approach called CRISPR to repair bone cells at the genetic level. RISPR is a new technology that allows for the targeted repair of disease causing mutations in a versatile and highly efficient manner. CCBH scientists have designed strategies for repairing point mutations in patient bone marrow cells, which could then be delivered back to an individual. While this technology is still in the early stages of its development, in the future we see that it could be used for fetal or neonatal gene therapy. By treating a child diagnosed with OI in the womb or shortly after birth, we could permanently correct their genes giving them a normal life