Lab head: David Little, Aaron Schindeler, Craig Munns, Joshua Burns
Location: The Kids Research Institute at The Children's Hospital at Westmead

The Center for Children's Bone Health(CCBH) aims to advance orthopaedic care and bone health through an improved understanding of bone diseases, bone healing and pharmaceutical therapies. Its research approach is highly translational, bridging the gap from bench to bedside.

The CCBHencompasses an array of basic scientists, engineers, technicians and research assistants, postgraduate scholars, medical doctors and other clinical staff across the Sydney Children's Hospitals Network (SCHN). Members of the CCBH have had significant academic and grant success and has a robust publication records, particularly inhigh impact bone, orthopaedic, and tissue engineering journals.

Research approach equipment: Advanced genetically modified mouse models Culture of cell lines and primary bone & muscle cells from mice & humans Gene expression & protein analysis by qPCR and western blotting Tissue histology & histomorphometry XR, DEXA, QCT and microCT scanning Virus induced gene excision Surgical models in rodents(fracture models, BMP-induced bone, spine fusion) & drug administration Manufacturing of polymer scaffolds and other tissue engineering constructs

Gene discovery in a cohort of paediatric bone fragility disorders

Primary supervisor: Andrew Biggin

Bone fragility disorders can have a major impact on children, leading to multiple crippling fractures during childhood. Currently such patients are managed by physiotherapy, drug interventions, and surgery, however there remains no curative treatments for their disorders. One major limitation to developing new treatments is that in many cases the nature of the genetic disease is unknown. In some cases there are potential mutations that have been identified (called variants of uncertain significance) and in others there are no known mutations. With the rise of whole genome sequencing technology, we anticipate that many new potential bone disease causing genes will be discovered.

We are looking for an enthusiastic student with a background in science, medical sciences, or medicine with an interest in genetics and gene technology. In this project we will be using CRISPR/Cas9 technology, iPS cells, bone cell culture, and molecular biology methods to examine the function of novel gene variants and new genes identified by high-throughput sequencing.

In this project a student will gain experience with DNA cloning and subcloning, cell culture methodology, protein gels, CRISPR/Cas9 gene editing, and potentially preclinical models of brittle bone disease. Scholarship opportunities exist for this honours project.

This project is based at the Kids Research Institute at The Children’s Hospital at Westmead. Interested students should contact Dr Andrew Biggin on for more information.

Discipline: Applied Medical Sciences, Westmead
Co-supervisors: Craig Munns, Aaron Schindeler
Keywords: Bone health, Genetic diseases, Gene repair