Collaborations
Oncology
Collaborative Partner:
Clinical Application:
Status:
Scope:
Target:
The Alfred Hospital Melbourne (including a consortium of cancer centres)
Melanoma
Data Use Agreement Executed
Project Initiated
Analysis of extensive cohort (>400) of immunotherapy treated melanoma patients
Clinical validation of the GMDx -IO application for selecting patients
for immunotherapy treatment.
“The biggest challenge we have today is predicting whether immuno-oncology will actually work”
—PROFESSOR MARK SHACKLETON HEAD OF ONCOLOGY -ALFRED HOSPITAL
Collaborative Partner:
Clinical Application:
Status:
Scope:
Target:
Garvan Institute of Medical Research (Sydney)
Sarcoma
Data Use Agreement Executed
Project Initiated
Analysis of 20 individuals with Ewings sarcoma, 20 individuals with undifferentiated pleomorphic sarcoma and 20 matched normal cohorts
Predict the occurrence of Sarcoma in elderly patients
Cognitive Impairment
Collaborative Partner:
Clinical Application:
Status:
Target:
CRC for Mental Health, Australian Imaging Biomarkers and Lifestyle
Study of Ageing (AIBL) (including The Florey Institute )
Identify pre-clinical Alzheimer’s Disease patients
Data Use Agreement Executed
Project Initiated
GMDx-CI application for early detection of AD
Strategic Collaborations in Alzheimer's Disease
“The value of the AIBL biobank and GMDx’s position at the fore of applying novel genomic profiling tools to identify mutational changes related to Innate Immunity promises to be a very powerful collaboration”
- PROFESSOR DAVID AMES – LEADER AIBL STUDY - THE FLOREY INSTITUTE MELBOURNE
Studies
CELL LINE STUDY
GMDx has partnered with the Hudson Institute for Medical Research (HIMR) to independently validate the 4-6 nucleotide and codon-contexted sequences targeted by key deaminases using controlled elevated expression of AID, A3B, A3G, ADAR1 and ADAR2 deaminases in a range of human cell lines. A second aim is to quantify differences in the targeting preferences of the inferred deaminase binding domains (DBDs, particularly those deaminase signatures implicated in cancer progression as potential drug targets.
Progress includes success with deaminase expression vectors to show that they can be used to transfect human cells lines and establish nuclear and other subcellular localisation of the expressed protein products during the cell cycles of short term in vitro cell growth. Continuation of this work will require the integrated elevated expression of AID, A3B, A3G, ADAR1 and ADAR2 as a minimum.
HEALTHY POPULATION & PLATFORM VALIDATION STUDY
A clinical trial was conducted to evaluate the Innate Immune Fitness test platform performance characteristics and its suitability for clinical use. In collaboration with the Hudson Institute of Medical Research, blood and saliva samples from 24 healthy volunteers were collected and sequenced. The proprietary GMDx Genomics IIF platform was used for the analysis of all genomic data and provides end-to-end validation of our pipeline.
This trial has been completed. Using the GMDx Genomics IIF Platform, we successfully demonstrated that saliva and blood both provide quality sources of DNA for whole exome sequencing, with no difference in ability to resolve variants and deaminase-associated metrics.
A preprint of this trial is posted on bioRxiv: www.biorxiv.org/content/10.1101/807073v1
HBV CLINICAL STUDY
Over 350 million people are infected with the hepatitis B virus (HBV) worldwide, with more than 150,000 chronically infected in Australia. The outcomes of HBV infection are age-dependent and include asymptomatic infection, acute hepatitis B, chronic HBV infection, cirrhosis and hepatocellular carcinoma (HCC). Nucleos(t)ide analogue (NA) therapy is effective at maintaining viral control, but duration of treatment is uncertain in hepatitis B e antigen (HBeAg) negative disease.
GMDx Genomics partnered with local and international collaborators in prospective and retrospective translational studies. Blood and saliva samples have undergone genomic sequencing to establish determinants of sustained remission following discontinuation of NA therapy in two cohorts of chronic hepatitis B patients. IIF profiles were generated at multiple time points after cessation of NA treatment. IIF analysis was conducted using our proprietary platform to determine metrics that differ between patients that recover compared to patients that relapse. These translational studies have the potential to impact clinical practice by personalising HBV NA treatment regimes.