Gene Therapies – Success in treatment of SMA brings hope for children with rare diseases

The Research Australia (INSPIRE) winter issue features Gene Therapy success for infants with Spinal Muscular Atrophy (SMA).

After 25 years of incremental development the possibility of treating genetic diseases by repair or replacement of faulty genes is finally becoming a reality. A stunning example of this approach, known as gene therapy is the successful treatment of infants with SMA.

The SMA pilot program was supported and funded by Luminesce Alliance.


Computational Biology team joins CAVATICA to collaborate on paediatric cancer data

Our Computational Biology team joins CAVATICA to collaborate on the exchange and analysis of paediatric cancer data  .

CAVATICA is an international cloud-based platform that allows partners to collaborate through the sharing and analysis of paediatric cancer data.

In 2018, the Australian Bioinformatics Data Commons (AusBioCommons) project, funded by the Australian Research Data Commons (ARDC) was launched, to establish an Australian arm of the CAVATICA platform.

The Precision Medicine Program Team Computational Biology Program (PPM2) has been working closely with AusBioCommons by leading a flagship research project that will integrate RNAseq data from Australian patients with that from 1000 patients from the United States.

As part of the AusBioCommons collaboration, the computational biology team team hosted as series of workshops in early February at the Children’s Cancer Institute, to provide training on the use of the Australian CAVATICA platform and the development of genomic analysis applications. The workshop included Dr Allison Heath, the Director of Data Technology and Innovation and two engineers from the US based CAVATICA platform. A webinar was delivered from the workshop to showcase the potential of the platform to Australian users.

This exciting partnership will see the establishment of the Australian Bioinformatics Commons Paediatric Pathfinder Project enabling data sharing between Australian and American researchers. The first project will see RNA-Seq brain-tumour data from the ZERO cancer program (Aus) merge with the Children’s Brian Tumour Tissue Consortium (USA) to identify novel brain tumour subtypes.

The early outcomes of this project have been substantially reduced analysis costs, international knowledge sharing and collaboration. Importantly, AusBioCommons may become the preferred way to enable sharing of large-data precision medicine data generated by projects across the Luminesce Alliance, including the Cancer Predisposition Screening Program (PPM3).


The INFORM2 Clinical Trial opens in Australia

The INFORM2 Trial has officially opened in Australia. This trial is an exploratory multinational phase I/II combination study of Nivolumab and Entinostat in children and adolescents with brain cancer.  The trial aims to increase survival rates with the use of these two immunotherapy agents.

This is an international trial lead by the Hopp Children’s Cancer Center Heidelberg, Germany and The Perth Children’s Hospital is the first Australian site to open for recruitment. The Sydney Children’s Hospital and the Royal Children’s Hospital Melbourne will follow shortly and will join other centres in Germany, The Netherlands, Sweden, and France.

NSW Health has provided Luminesce Alliance partners, the Sydney Children’s Hospitals Network (SCHN) and the Children’s Cancer Institute (CCI) $1 million over four years  to support this trial and as a means of  demonstrating that NSW has the capacity and capability undertake international clinical trials of this calibre and clinical potential. The Lead Investigator is Associate Professor David Ziegler.


Rare Diseases Functional Genomics

The Rare Diseases Functional Genomics (RDFG) program is a joint endeavour of Kids Research, Sydney Children’s Hospital Network and Children’s Medical Research Institute. The RDFG program aims to empower the diagnosis and treatment of genetic disorders, including the rare and difficult to diagnose and to discover how genetic variants contribute to disease, with the ultimate goal of early curative treatment or disease prevention.

The RDFG program provides support to reach a molecular diagnosis of a genetic disorder by undertaking functional studies of variants of uncertain significance and triage of cases of significant clinical and scientific interest for in-depth functional genomics investigation.

The RDFG laboratory can perform studies such as Western blotting, immunocytochemistry, mRNA analysis and cell-based assays to determine pathogenicity of variants. For genes where the functional studies are beyond the scope of the RDFG laboratory, assistance may be sought from expert researchers, or the Stem Cell & Organoid Facility and related services at CMRI.

The RDFG team is proudly supported by Luminesce Alliance with the support of NSW Government to coordinate and integrate paediatric research.