Funding scoop for research into rare genetic disorder
Originality, expertise and ready access to advanced technology have all helped Monash Biomedicine Discovery Institute (BDI) researcher Dr Andrew Ellisdon secure a sought-after AU$1.1 million United States Department of Defense grant.
Dr Ellisdon will use the grant for a new project aimed at creating a snapshot at near-atomic level of an assembly of three proteins that cause the genetic disorder Tuberous Sclerosis Complex (TSC). These proteins act as a master switch to turn off cell growth and proliferation.
Mutation in TSC genes can cause the complex to either partially or completely lose this important regulatory function, resulting in cell growth going awry, manifesting in the many debilitating symptoms of TSC disorder. The disorder is characterised by the formation of tumours in a range of organs and tissues including the brain, heart, kidneys, skin, and lungs.
It affects more than two million people worldwide.
Investigating TSC is new for Dr Ellisdon and his lab. He became interested in the complex while investigating how multiple related proteins govern cell growth. Dr Ellisdon specialises in protein structure, getting down to super-fine detail to determine the shape of a protein then trying to determine its function and how it works in the human body.
He and colleagues will use cryo-electron microscopy at the Monash Ramaciotti Centre for Cryo-Electron Microscopy to combine hundreds of thousands of images to create a high-resolution 3-D image of the complex.
“Some of the advances in technology are really going to be fundamental to us getting a picture of this protein complex; without that we couldn’t do the work we’re doing,” Dr Ellisdon said.
“Then we can work out how it functions in the body to inhibit cell growth. Once we know how it functions we also know how the genetic mutations or changes in these proteins can lead to dysregulation, and therefore lead to increased cell growth and tumour formation,” he said.
“If we can get these insights the project will be a great success. No one’s actually been able to look at this before.”
The novel insights gained in the project would potentially lead to the development of new drugs to treat TSC in the future.
Dr Ellisdon is Principal Investigator (PI) on the three-year New Investigator project.
“It’s very exciting to get funds from an external source such as the United States and be recognised at that level for this project,” Dr Ellisdon said.
He has previously been awarded five NHMRC grants and is joint PI on a research and licensing agreement with healthcare company Roche.
About the Monash Biomedicine Discovery Institute
Committed to making the discoveries that will relieve the future burden of disease, the newly established Monash Biomedicine Discovery Institute at Monash University brings together more than 120 internationally-renowned research teams. Our researchers are supported by world-class technology and infrastructure, and partner with industry, clinicians and researchers internationally to enhance lives through discovery.