Small grant recipients

A toolbox for modelling and correcting genetic bone disease

Lead researchers: Associate Professor Aaron Schindeler, Professor Craig Munns and Dr Leszek Lisowski

 

This project will further develop core technologies for the efficient delivery of genetic vectors in bone, which remains a limiting factor for gene editing tools, particularly in this area.  

 

The work will enable the functional analysis of gene variants suspected to cause human bone disease and drive the development of curative treatments for bone fragility disorders using gene therapy.  The knowledge gained from this project will be invaluable for a variety of precision medicine applications, where maximizing the efficiency of gene delivery is key.

 

A paradigm for multicentre biobanking within Paediatrio: building the NSW Child Cancer Survivor Cohort

Lead researchers: Associate Professor Dan Catchpoole, Professor Richard Cohn, Ms Kiri Collins

 

This project will collate the NSW Childhood Cancer Survivor Cohort by bringing together biospecimens and clinical data from survivors of childhood cancer, collected by the well-established paediatric tumour banks at The Children’s Hospital at Westmead and the Children’s Cancer Institute.

 

This collaboration will address research questions into the genetic risk factors for late effects of childhood cancer treatment with the aim of identifying potential areas for intervention to minimize risk for future patients. The work will also lay the foundation for the implementation of biobanking services across the Paediatrio network and will demonstrate the value of collaborative biobanking to recruit the highest possible number samples or participants in a field with small patient groups and rare diseases.

 

Developing minimal residual disease testing for childhood brain malignancies

Lead researchers: Dr Federica Saletta, Associate Professor Jonathan Karpelowsky, Dr Smadar Kahana-Edwin, Dr Rebecca Poulos, Associate Professor Paul Ekert

 

The blood and cerebrospinal fluid (CSF) of children affected by brain malignancies contain tumour material shed by cancer cells that can be detected to demonstrate the presence of persistent cancer cells at the end of treatment.  The aim of this project is to use these detectable biomarkers, such as cancer-specific DNA mutations and microRNAs (miRNA), to define thresholds of minimal residual disease (MRD) at the molecular level and predict the likelihood of cancer relapse or progression. This approach could guide treatment options and therapy intensification in a clinically relevant time-frame, ultimately leading to improved survival of paediatric brain cancer patients.

© 2016 Paediatrio