Experimental labs: Today’s research, tomorrow’s cure

At Kids Research the goal is clear, to understand and find cures for all conditions affecting children and adolescents. A goal given more meaning by the location of Kids Research on the doorstep of The Children’s Hospital at Westmead.

Breakthroughs in diagnosis and treatment often begin in the experimental labs, where drugs, chemicals and other types of biological matter are analysed and tested. The complexity of biology means the experimental labs aren’t simply important to research, they are essential. Despite how perfectly an experiment may be planned, nothing compares to actually testing it using cells, tissue or DNA.

The experimental labs at Kids Research host several teams, with great strengths in childhood cancer, immunology and gene therapy, and also great work being done in areas of neurology, muscular diseases, orthopaedics, kidney disease and metabolic disorders. However, all teams are driven by the notion that today’s research could be tomorrow’s cure.

Leading one of the teams is Associate Professor Seo-Kyung Chung, who is interested in finding the mechanisms of disease in neurological disorders. Her team has contributed to the world’s largest epilepsy consortium, an analysis of 25,000 cases. With expertise in the functional analysis of gene variants, they will now grow a pea-sized ‘mini-brain’ to translate lab findings into treatment options.

"It’s people working together for the benefit of the children. When you walk around the children’s hospital and you see sick kids, you realise what we are doing here has a real impact."

On the next frontier of genomic medicine is a group led by Professor Sandra Cooper. She is working on a new framework of genetic testing called RNA diagnostics. The RNA is the ‘worker bee’ of the DNA and what her team has discovered is if the answer for a disorder is not in the DNA, about 90 per cent of the time it’s in the RNA. She’s working to implement RNA testing into routine care.

"There is something meaningful about having a research centre actually in the hospital. Someone could call us from surgery and somebody could just rip along the corridor and be hanging outside to get a sample straight from theatre."

Dr Lisa Riley’s support lab for Rare Diseases Functional Genomics looks at identifying genetic variants of unknown significance. These are variants yet to be identified and sometimes have never been connected to disease.

“Often we do get feedback from the clinicians saying they’re grateful for the research support, because sometimes there’s no other way to resolve the genetic diagnosis,” she said.

The Allergy and Immunology Research Lab, led by Dr Peter Hsu, focuses on immune tolerance and allergic disease in children and early prevention of allergy development. His team also works on COVID-19 immune responses in children and comparing it to adults.

“I think it’s a very important part of the research translation cycle, from bench to bedside. Especially now with personalised medicine,” he said.

A/Prof Wendy Gold’s team specialises in rare neurodevelopmental disorders, predominantly Rett syndrome. Rett syndrome is a genetic disorder mostly affecting girls and is the second most common cause of severe intellectual disability after Down syndrome. Her team uses human-derived brain organoids to test their gene therapies, including advanced gene editing techniques.

“The labs are connected, so the groups have more collaboration and can share common equipment. It’s critical because if one lab is isolated it makes it very difficult to keep research going between different labs,” she said.

Prof Geraldine O’Neill’s team from the Children's Cancer Research Unit works on developing models of brain cancer. Over the last few decades there’s been little improvement in the treatment of the most deadly childhood brain cancers. So the team’s objective is to develop models in the lab to more accurately replicate what happens in the patient, in order to find better treatments.

"Being able to grow these 3D structures in our lab is really giving us an unprecedented ability to mimic what goes on inside the patient, but now we can do it in a test tube."

A/Prof Fabienne Brilot-Turville leads the Brain Autoimmunity group, focusing on impairment of the immune system in the central nervous system and specialising in disorders associated with autoantibodies. Her ultimate goal is to identify which patients will relapse and so far, her team has discovered a way to predict a relapsing cause in a third of patients.

“We can do research which is as valid, as translational, as relevant by analysing the data sets already published and out there. Or we can take it a step further and generate it ourselves in the lab,” she said.

A/Prof Aaron Schindeler’s Bioengineering and Molecular Medicine group uses pharmaceuticals, supplements and gene medicines to treat musculoskeletal conditions. His group has made great strides in the treatment of genetic disorder, Neurofibromatosis Type 1 (NF1). Recently, he’s proven muscle weakness in children with NF1 can be treated by a simple over-the-counter supplement.

"One of the problems of being effective in research is if you do your job right you can no longer be an expert in the problem you have because you have solved it."

A problem that showcases the excellence of the teams working in the experimental labs at Kids Research, as their research is transformed from tomorrow’s cures into today’s cures.