SMILE's Research Program
As a philanthropist, it can be hard to know where to start when allocating funds to medical research. Does the research meet high standards of quality, innovation, significance and scientific approach? Is it unique or world-leading? Could it be funded by others? SMILE has consulted experts in research and funding to develop its grantmaking strategy, ensuring that these questions are answered.
SMILE has undertaken a rigorous process, engaging top clinicians and researchers to select the following rare childhood diseases and disorders as the initial focus of its research program.
Inaugural Research Grant Recipients Announced
The SMILE Foundation’s inaugural research grant recipients were announced by the Hon. Reba Meagher, NSW Health Minister at SMILE’s gala launch event at the Sydney Opera House on 21 July 2007. These outstanding research projects will each receive $300,000 over the next three years.
1. Grant Recipient: Associate Professor David Thorburn, NHMRC Principal Research Fellow; Head, Mitochondrial & Metabolic Research, Murdoch Children’s Research Institute, Melbourne
Area of Research: Mitochondrial Disorders
• Mitochondria are the power plants in our cells, which convert food into the energy we need for life. • Each year about 50 children born in Australia will develop a mitochondrial disorder. • In the most severe forms they cause death in infancy or neurodegenerative disease in childhood.
Grant Project:
• Characterising the disease pathways and trialing pharmacological or other treatment strategies. • Aim: ultimately to develop improved treatments for children with mitochondrial disorders.
2. Grant Recipient: Associate Professor Jozef Gecz, NHMRC Senior Research Fellow; Head, Neurogenetics Laboratory, Women's and Children's Hospital, Adelaide
Area of Research: X-linked Mental Retardation
• A group of rare disorders defined by the presence of mental retardation (IQ<70) and the fact that the causative gene and mutation are on the chromosome X. • Children present with mild to severe developmental delay, e.g. may not be able to talk, walk, are floppy and some do not respond to stimuli. • There is often associated epilepsy, autism and various behavioural problems and patients are almost always fully dependent on 24/7 care.
Grant Project:
• Identification of genes for X-linked mental retardation. • This will provide the means for genetic counselling of affected families. • Longer term, gene identification will help to enable development of interventions to improve and eventually treat these conditions.
3. Grant Recipient: Professor Kathryn North, Douglas Burrows Professor of Paediatrics, University of Sydney; Deputy Head, Institute for Neuromuscular Research, Children’s Hospital at Westmead, Sydney
Area of Research: Muscular Dystrophies and Inherited Myopathies.
• These are inherited disorders which result in weakness of the arms and legs, the muscles of breathing and sometimes the heart muscle. • In the most common of these disorders, Duchenne muscular dystrophy, muscle weakness is relentlessly progressive; without treatment, children lose the ability to walk as young as 8-10 years of age and may die from respiratory failure by around 20 years.
Grant Project:
• Improved diagnosis for at least 100 patients and their families each year. • Identification of new disease genes. Accurate diagnosis is essential for genetic counselling and prevention. • Expansion of clinical trials for improved therapies resulting in better patient care.
If you would like to be advised regarding SMILE's next call for grant applications, please email us.