WEHI receives $2.5 million fund to develop personalized cancer treatments

With a $2.5 million fund received from the Medical Research Future Fund (MRFF), a new genomics project led by WEHI will develop precision medicine and customized cancer therapy for Australians.

WEHI receives $2.5 million fund to develop personalized cancer treatments
A visualization of deep mutational scanning data from MaveDB. Each cell in the heatmap is a different genetic variant measured in the experiment, with the color corresponding to the variant's functional impact. Image Credit: Walter and Eliza Hall Institute of Medical Research

To advance diagnosis and update clinical care for all patients who have gone through genomic or genetic testing in Australia, the funding from the Genomics Health Futures Mission of MRFF will aid in research to apply the full capacity of genomic information.

The global team of scientists and clinicians, headed by Dr Alan Rubin, a WEHI Computational Biologist, will intend to acknowledge the few biggest barriers hindering genomic data usage in clinical care and obtain novel understandings of breast, blood, and ovarian cancers.

Dr. Rubin stated that national and global biological databases comprised a wealth of genetic data but integrating the information and interpreting it precisely was a big difficulty.

Image Credit: ESB Professional/Shutterstock

Image Credit: ESB Professional/Shutterstock

Diagnosing genetic diseases is difficult because subtle changes can be harmful but we don’t always know which changes are benign and which ones may contribute to disease,” he added.

More than half of the genomic variants cataloged in clinical databases can’t be used to inform diagnosis and treatment because we don’t have enough information to say whether they’re significant for a patient’s health or not.”

With new technologies, we can now examine every possible change in a single gene in one experiment, but what we’re missing is an easy way to share this data and cross-reference it with what we see in patients—this project will bridge that critical gap.”

Dr Alan Rubin, Computational Biologist, Walter and Eliza Hall Institute of Medical Research

Primary investigators from the QIMR Berghofer Medical Research Institute, the Centre for Cancer Biology, the Peter MacCallum Cancer Centre, the University of Washington, and NSW Health Pathology were included in the international research group headed by Dr. Rubin.

By working with 15 research and clinical partners, the group will build technology to link two key data platforms for allowing quick clinical translation, using the technology to examine cancer-related genes, and educating clinicians in Australia on the way to understand and harness the data to enhance patient health.

Large-scale genetic data

The development of a novel kind of experiment, called multiplexed assays of variant effect (MAVEs), has transformed the capacity to comprehend the job of genes and their functions in disease.

In a single well-controlled experiment, MAVEs provides an approach for scientists to measure the effect of tens of thousands of individual genetic variants systematically on the role of a gene.

Data obtained from MAVEs has many applications, from understanding the fundamentals of how a gene or protein functions to measuring the potential role of genetic variants in a disease. But the data can be difficult to access and interpret, so the information is not widely used and MAVEs are still slow to impact clinical care.”

Dr Alan Rubin, Computational Biologist, Walter and Eliza Hall Institute of Medical Research

This novel three-year project will link MaveDB, which is the first steadfast source of MAVE data, with a platform—known as Shariant—for exchanging clinical variant interpretations among clinical molecular pathology laboratories in Australia.

The integration of two platforms will allow laboratories to utilize MAVE information to enhance genetic diagnosis across a wide range of diseases.

Dr. Rubin stated that the project would also offer aid for variant curation tools and combine with other genomic resources of Australia.

These efforts will enable Australian labs to more easily access existing and forthcoming MAVE data from a global network of researchers,” he added.

Cancer focus

The project will also produce new MAVE information to aid in categorizing patient variants and informing treatment options for breast, blood, and ovarian cancers.

The study will concentrate on RUNX1 and GATA2, which are genetic variants in blood cancer genes, along with PARPi, which is a class of targeted cancer therapeutics emerging fast as the standard of care in ovarian cancer. Scientists will work to win over resistance, the main concern with PARPi.

The study will also examine how differences scattered throughout breast cancer patient genomes may impact the risk related to certain genetic variants in the BRCA1 gene.

This study will establish a new method with the capacity to enhance the precision of genetic diagnosis that can be employed for a broad range of diseases where common genetic variation can aid in foreseeing the risk.

Multi-disciplinary collaboration

Professor Doug Hilton AO, WEHI Director, stated that the project was an excellent example of multi-disciplinary teamwork to help in transformative findings and increasing clinical results.

We are thrilled to receive funding from the MRFF for this significant project, which will harness WEHI’s expertise in bioinformatics and bring together leaders across molecular pathology and cancer research. It is wonderful to see the innovative MaveDB database, co-developed at WEHI with international collaborators, deployed to help clinicians make a difference to patients.”

Professor Doug Hilton AO, Director, Walter and Eliza Hall Institute of Medical Research

This project will create a virtuous cycle, where data can inform clinical care and patient need can in turn drive research priorities. It demonstrates how bioinformatics and computational biology are revolutionizing the way medical research is undertaken and WEHI is excited to be at the forefront of this transformation,” Hilton concludes.


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