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New MCRI research projects secure federal funding

Institute News
Tuesday, December 15, 2020 - 4:49pm

Testing new treatments for genetic skeletal disorders and improving rapid diagnoses for neurogenetic disorders are among the Murdoch Children’s Research Institute (MCRI) projects to secure new Federal Government researcher grants.  

Associate Professor Shireen Lamande and Professor Paul Lockhart have received National Health and Medical Research Council (NHMRC) Ideas Grants announced by Federal Health Minister Greg Hunt.

Associate Professor Lamande, who received $961,150 for her project, said genetic skeletal disorders, such as dwarfism, were a significant disease burden with limited treatment options. 

Her study will test repurposed approved drugs and new drug candidates for these disorders on mice and human stem cells, which have been reprogrammed to become bone and cartilage “disease in a dish” models.  

Professor Lockhart, who received $889,936 for his project, said identifying the mutation or genetic cause of disease were the first step towards appropriate clinical care and treatment. 

“This diagnostic process is being revolutionised through the ability to sequence the entire human genome,” he said. “But it’s limited in being able to help those with DNA repeat expansion disorders, a class of genetic diseases, such as Huntington’s disease and ataxia, that are poorly understood but key to developing targeted treatments.” 

Professor Lockhart said his team would create a new diagnostic tool that would identify new and known DNA repeat expansion disorders, providing rapid diagnoses and better clinical care.   

Ideas Grants support a broad range of research from discovery science through to clinical research, health services and public health research. 

NHMRC Postgraduate Scholarships were awarded to:

  • Erin Crellin to investigate what we can learn from paediatric stakeholder experiences in delivering genome sequencing to aid future adoption in other healthcare settings.
  • Elyssia Bourke to investigate why children develop Acute Severe Behavioural Disturbance and determine the best management when they present to the Emergency Department. 
  • Natalie Tan will look closely at the genes in a family to see what is different and whether this difference is the cause of rare health problems.
  • William Garvey to explore the potential for a collaboration between health and education to identify children with emotional and behavioural difficulties sooner and more accurately and put in place effective strategies of support.
  • Hiep Pham to explore how mental health issues influences important health outcomes for adolescents with cystic fibrosis such as respiratory health, sleep quality and pain issues.