MRFF support of Stem Cell Research @ UniMelb

This funding supports five pilot disease team projects:

• Towards novel treatments for genetic causes of blindness

  This project aims to save the sight of children with rare genetic defects that slowly cause blindness. This would ultimately involve modifying the mutation within the patient’s eye using gene editing tools. The safety and effectiveness of this approach must be tested before moving to clinical trial. It is possible to build a model of a human eye from patient stem cells. Using this approach, researchers will carry out a unique human-based approach to determining whether this treatment is likely to work. The team includes clinical ophthalmologists with experience in taking novel treatments into eye and the charity Genetic Cures Australia. If successful, this innovative technology will have widespread application in many genetic and congenital diseases that affect millions of people.

  For more information on this project contact Linda Cox on linda.cox@mcri.edu.au or +61 418 583 986.

  Investigators from the University of Melbourne

  • Professor Alice Pébay (University of Melbourne)
  • Lisa Kearns (University of Melbourne and Centre for Eye Research Australia)

  Investigators from other institutes

  • LEAD: Professor Alex Hewitt (University of Tasmania)

  

• Human heart tissue for understanding heart disease

  This project aims to repair and reconstruct tissues for kids with heart defects. More than 2000 children are born with major heart defects in Australia each year. While many can be saved via early and invasive surgical intervention, in many instances life span is limited and quality of life restricted. It is possible to generate human heart muscle from pluripotent stem cells. This provides the possibility of engineering contractile human tissue that may be able to improve the long term outcome for such children. There is a robust heart stem cell network nationally working right across the space of modelling heart disease, improving heart repair and potentially recreating heart tissue to treat kids with congenital heart disease. This group is well aligned with HeartKids and has strong links with the cardiac surgeons and cardiologists around Australia.

  For more information on this project contact Linda Cox on linda.cox@mcri.edu.au or +61 418 583 986.

  Investigators from University of Melbourne

  • LEAD: A/Professor Enzo Porrello (Murdoch Children's Children Institute and University of Melbourne)
  • Dr David Elliott (Murdoch Children's Children Institute and University of Melbourne)
  • Dr Christian Brizard (Royal Children's Hospital, Murdoch Children's Children Institute and University of Melbourne)
  • Dr Yves D'Udekem (Royal Children's Hospital, Murdoch Children's Children Institute and University of Melbourne)
  • Dr Igor Konstantinov (Royal Children's Hospital, Murdoch Children's Children Institute and University of Melbourne)
  • Dr Michael Cheung (Royal Children's Hospital, Murdoch Children's Children Institute and University of Melbourne)

  Investigators from other institutes

  • Professor Richard Harvey (Victor Chang Cardiac Institute)
  • Dr James Hudson (QIMR Berghofer)
  • Dr David Winlaw (University of Sydney)
  • Professor James Chong (Children's Hospital Westmead and University of Sydney)
  • Dr Adam Piers (Murdoch Children's Research Institute)

  

• Stem Cells for Sight: Building the pathway from the lab to the clinic

  This project aims to develop a treatment for people that are blind due to damage to their cornea. Vision impairment burdens society more than heart disease and poor mental health. In Australia, there is an urgent unmet need for stem cell treatments for the cornea that are able to restore vision. This project will develop the best techniques for treating corneal blindness in Australia, manufacturing the cells needed to do this and training clinicians in the technique. This project provides the possibility of restoring vision in patients with corneal blindness in Australia. This Disease Team has support from the National Stem Cells Foundation for Australia and brings together ophthalmic clinicians, stem cell researchers and bioethicists to address the burden of vision impairment.

  For more information on this project contact Linda Cox on linda.cox@mcri.edu.au or +61 418 583 986.

  Investigators from the University of Melbourne

  • Professor Megan Munsie (University of Melbourne)

  Investigators from other institutes

  • LEAD: Professor Stephanie Watson (University of Sydney)
  • Professor Nick Di Girolamo (University of New South Wales)
  • Professor Robyn Jamieson (Children's Medical Research Institute)
  • A/Professor Michael O’Connor (Western Sydney University)
  • Dr Nick Toalster (University of Queensland)
  • Dr John Hogden (University of Queensland)

  

• Mechanisms and targeted treatment for neurogenetic disorders: SCN2A

  This project will develop new therapies for severe developmental and epileptic encephalopathies and autism disorders caused by mutations in the SCN2A gene and ultimately for other genetic disorders that affect the nervous system. While these disorders are rare, the unmet need is extremely high: conventional anti-epileptic drugs are mostly ineffective in the treatment of seizures and have no impact on cognitive and developmental delay seen in the affected children. The SCN2A gene has emerged as the major single gene linked to neurogenetic disorders. It encodes a brain sodium channel essential for the regulation of neuronal excitability. Joining the efforts of experts in clinical and functional epilepsy research, neurodevelopment and stem cell molecular genetics, this team aims to use induced pluripotent stem cell (iPSC) models to identify SCN2A disease mechanisms and assess the efficacy of SCN2A targeted treatments in these models. This will enable accelerated deployment of novel therapies that will lead to preferable clinical outcomes, improved quality of life for patients and their families and thus reduced socio-economic burden.

  For more information on this project contact Linda Cox on linda.cox@mcri.edu.au or +61 418 583 986.

  Investigators from University of Melbourne

  • LEAD: Professor Steven Petrou (Florey Institute of Neuroscience and Mental Health and University of Melbourne)
  • Dr Snezana Maljevic (Florey Institute of Neuroscience and Mental Health and University of Melbourne)
  • Dr Saul Mullen (University of Melbourne)

  Investigators from other institutes

  • Dr Katherine Howell (Murdoch Children's Research Institute)
  • Dr Mirella Dottori (University of Wollongong)
  • Dr Dmitry Ovchinnikov (University of Queensland)

  

• A stem-cell derived auxiliary kidney to provide partial renal function in end stage renal disease patients

  The ultimate aim of this disease team is to develop transplantable kidneys generated from human pluripotent stem cells. Patients with kidney failure are either treated with dialysis or donor organ transplantation. At present, chronic kidney (renal) failure costs the Australian Government $1 billion per annum (>$25 billion per annum in the US). Globally, more than 3 million patients a year require treatment for kidney failure, with >70% of these treated using dialysis and hence facing a poor quality of life and high mortality. Hence, there is an urgent need to find alternative treatment options. This team including renal clinicians, stem cell biologists and engineers has developed an approach to recreate human kidney tissue from human pluripotent stem cells (kidney organoids). Early studies transplanting such organoids shows that they link to the blood supply of the host. With improvements in scale and structure, this may provide functional replacement for failing kidneys as alternative to dialysis for the treatment of kidney failure.

  For more information on this project contact Linda Cox on linda.cox@mcri.edu.au or +61 418 583 986.

  Investigators from University of Melbourne

  • LEAD: Professor Melissa Little (Murdoch Children's Research Institute and University of Melbourne)

  Investigators from other institutes

  • Dr Jess Vanslambrouck (Murdoch Children's Research Institute)
  • Dr Kynan Lawlor (Murdoch Children's Research Institute)
  • Dr Fanyi Li (Murdoch Children's Research Institute)
  • Professor Antonius Rabelink (Leiden University Medical Centre)
  • Dr Brigitta Wieles (Leiden University Medical Centre)
  • Dr Cathelijne van den Berg (Leiden University Medical Centre)