Professor John Christodoulou is the new face of Genomic Medicine at the RCH campus. Working in partnership with the Murdoch Children’s Research Institute (MCRI) and the University of Melbourne’s Department of Paediatrics, John is leading the integration of genomic medicine into RCH clinical care thanks to your generosity.
Genomic Medicine examines the human genome or the genetic information that determines who a person is, from their looks to the way their body functions. By understanding the genome, researchers can discover new therapies, medications and cures.
“Genomic medicine is an emerging field that’s helping us discover the biological basis for childhood onset genetic diseases. It’s also helping us discover new disease genes and give answers to families about what’s affecting their child. When you understand the biology of a condition, you can identify potential treatments that may change a child’s life,” said John.
Internationally recognised for his work as a genetic researcher and clinician, John began his career at the hospital. Training under MCRI founder Professor David Danks, John specialised in genetics with an interest in genetic metabolic disorders that interfere with the chemistry of the body. Now, more than 20 years later, John is excited to be back on the RCH campus in a role that was “exactly what I was looking for.”
As Chair of Genomic Medicine, John wears many hats. His first is as co-lead of the Australian Genomics Health Alliance, a five-year health services research project with more than 70 organisations “committed to integrating genomic medicine into healthcare across Australia.” Through its work, Australian Genomics aims to “shorten diagnosis times, enable early intervention and provide access to treatment for people with genetic disorders.”
Australian Genomics primarily plans to do this through a testing process called next generation sequencing (NGS). Through this technology geneticists can test all 20,000 genes at the same time, with the promise of shortening the diagnostic journey for families at a fraction of the cost.
A recent study by the Melbourne Genomics Health Alliance found that for infants strongly suspected of having a genetic diagnosis, NGS lead to five times the diagnosis rate at 25 per cent of the cost of regular diagnostic methods. In one third of children, the study found that these results lead to a change in the management of a child’s condition and overall health, which can have long term effects on the wellbeing of a patient and their family.
“Eventually, I would like to see genetic testing like this funded through Medicare just like many blood tests are now,” said John. “There is inequity of access to genetic testing because of the cost, so we’re working towards making this testing available to everyone who needs it.”
John’s second hat involves his work with the University of Melbourne. John is an integral member of the steering committee responsible for updating their Master of Genetics Counselling degree, as well as developing a new Masters of Genomics and Health degree specifically designed for other health professionals. He is also working with the team delivering the current Doctor of Medicine (MD) program in a bid to revamp the genetics and genomics components of the course.
“Genomics has advanced dramatically in the last five years and our work with the University will ensure that new genetic counsellors and doctors are genomically literate.”
John’s third hat is that of a genetic researcher. For over 20 years, he has led research into Rett Syndrome, a neurodevelopmental disorder where children display normal growth and development before gradually losing skills, their ability to communicate, and ultimately suffering from severe intellectual disability. Through his research, John has gained a better understanding of the relationship between specific changes in the Rett gene and their clinical consequences, and made inroads into knowledge of the biology of Rett Syndrome. John is now working on a specific therapeutic treatment based on these insights.
During this same period John led research into mitochondrial respiratory chain disorders, which affect the body’s capacity to use food as energy to fuel its cells. This lack of energy can cause a “catastrophic disease” which often significantly affects the brain, heart, vision and/or hearing. John’s research team has uncovered the genetic basis of the disorder in dozens of children, which may lead to new gene discoveries and therapies unthought of without the genetic diagnosis.
John’s research has also led to a potential therapy for patients with Phenylketonuria, a disorder where the body can’t break down the amino acid phenylalanine causing it to build up in the blood. Without treatment, this build up causes intellectual disability. Still in the testing phase, this therapy involves a genetically modified probiotic that aims to breakdown phenylalanine in the gut before it reaches the blood stream.
Through these many initiatives and your generous support, John is poised to achieve his big dream.
“My hope is that the RCH campus will excel as the premier facility for genomic testing, research and care of children in Australia. Thanks to fabulous philanthropic support, we are already providing families with definitive genetic diagnoses and giving them greater certainty and hope for their children’s future. With new and targeted therapies, we’ll make it possible for children with serious genetic conditions to lead happier and healthier lives.”