Article from 2022/2023 Impact of Giving Annual Report

From harnessing the power of genomic testing, to finding cures through precision medicine, research is the key to creating a brighter future for sick kids.

Thanks to the Clinician Scientist Fellowship program at the RCH, the greatest clinical minds are given the opportunity to change the future of children’s health with protected and funded research time.

The Clinician Scientist Fellowship program, formally known as the Career Development Award, has been supported by the RCH Foundation since 1995. Since then, almost 100 fellows have undertaken vital research across campus, leading to improved outcomes for patients at the RCH and beyond.

One of the 2023 fellows is Dr Katherine Howell, a neurologist at the RCH. Her research is focused on improving diagnosis, management and outcomes in early-life epilepsies – an area that Katherine is incredibly passionate about.

“Epilepsy occurs in about one in 600 children and most of those occur in early life – one in 1,000 babies has epilepsy, and about half of those have really severe epilepsy.

“For those with severe epilepsy, their seizures are very frequent and resistant to most treatments. They often have severe developmental impairments and are in and out of hospital. There is also quite a high mortality rate for this group of children,” said Katherine.

“At the time I was training, a lot of these children would go without knowing the cause of their symptoms. That meant we didn’t know the best way to treat them, and it was very hard to say what their future might hold.

“Seeing that really made me want to change things for these families, and that started with trying to understand the reason why these conditions happen. Once you can diagnose the cause you can start to tailor their treatment,” she added.

One of Katherine’s main fellowship projects is the Gene- STEPS study. Part of a global partnership called the International Precision Child Health Partnership, Gene-STEPS is a study of rapid genome sequencing in babies with epilepsy.

As Katherine explains, this cutting edge genetic test can give patients and their families answers in weeks, rather than months.

“Trio genome sequencing is the most advanced type of genetic testing we can do in clinical practice. So it has the best chance of making a diagnosis for children. But the real game changer is the rapid component.

“Normal genetic testing can take many months. During that time, the child might be having seizures multiple times a day which is not only horrible, but also impacting their development and making things worse for the child in the long term. By doing things rapidly, we’re getting a result in three weeks rather than three months. That enables us to individualise a patient’s management early,” she said.

Close to two years into the study, the results are already promising.

“The study found that rapid genome sequencing identified the genetic cause of a baby’s epilepsy in 43 per cent of children. 56 per cent of children who received a diagnosis had their treatment plan changed,” explained Katherine.

“What we need to do now is to try and understand what this means in terms of the child’s medium to long term health outcomes – what does it mean for their seizure outcomes, their developmental outcomes and their quality of life? We need to understand all of that so that children around the world can access this testing,” she added.

Katherine’s hope is that through this research, children with severe epilepsy will be able to access the best diagnostic testing to understand the underlying cause of their condition, allowing clinicians to move from a one size fits all approach to individualised treatment as early as possible.

“We hope that the treatments we can offer will completely stop seizures and change the developmental outcomes so that children and their families will be able to reach great potential, and not only survive, but thrive.”

For Katherine, programs like the Clinician Scientist Fellowship are the key to making this future a reality.

“So many clinicians have a lot to offer, but often it is difficult to fit research around your clinical role if you aren’t getting funding. This program makes it possible. There are not many places in the country where things like this are available – it’s amazing.

“Like all the fellows, I hope I can deliver really impactful research and transform lives. I think when people are giving money to this kind of thing, that’s what they are hoping for, and I hope I can show that the investment is worthwhile,” she added.