Communication is key in uncovering cause of rare neurological disorder in children

A chance conversation over coffee 7 years ago between Dr Sarah Gordon and Dr Kate Baker led to the discovery of a severe neurodevelopmental disorder in children. The partnership that ensued went on to help define, diagnose, and positively impact the lives of families and children living around the world with the rare syndrome which now bears their names.

Dr Gordon, Head of the Florey’s Presynaptic Physiology Laboratory at the Florey Institute, considers her partnership with Dr Baker, a clinical geneticist and cognitive neuroscientist at the University of Cambridge, to be the essential foundation that has enabled important discoveries about Baker-Gordon Syndrome.

Their partnership has characterised the clinical presentation of Baker-Gordon Syndrome, a neurodevelopmental disorder associated with the SYT1-gene, revealing how genetic variants in this gene cause this unique disorder. They also discovered that communication between brain cells is impaired which severely disrupts brain activity, leading to the developmental delay and intellectual disability that are central to this disorder.

Collaboration between laboratory and clinical researchers has undoubtedly led to stronger research into Baker-Gordon Syndrome according to Dr Gordon.

“Not only has a clinical tie allowed findings from my team’s work to flow into learnings for clinical application, but it has provided a direct window of insight into the humanity that underpins laboratory research and reinforced why we do what we do. I now have an even greater desire to continue this crucial work to improve people’s lives,” she said.

Recently, the team have joined forces again in new work published in Genetics in Medicine. In this new study, the team bring together their expertise to broaden our understanding of the clinical spectrum of Baker-Gordon Syndrome and the genetic variants that cause it.

PhD candidate Holly Melland, part of Dr Gordon’s team at the Florey and lead author of this study, hopes that this work will accelerate the diagnosis of others experiencing this disorder and improve the ability to predict how these children’s lives will look.

“The full potential of genome sequencing and personalised-medicine to transform the lives of people with rare diseases can be unlocked through the engagement of expert laboratory-based cell biologists and clinicians,” said Ms Melland.

The team hope to extend their findings about the biological mechanisms underpinning Baker-Gordon Syndrome to other related neurological conditions that affect children. Using their “disease in a dish” model Dr Gordon’s team are leading a study that investigates possible drug treatments for these disorders.

“I see collaboration between scientific and clinical research as absolutely essential for the future of biomedical research. By aligning with the most important questions coming out of clinical settings, you’re in a position to have a more direct impact on changes to clinical practice, and helping people within the community,” said Dr Gordon.

“Often with building new scientific relationships it’s about just taking a chance and reaching out,” she added.

More resources on Baker-Gordon Syndrome, including a summary of this research can be found here.

This research has been published in Genetics in Medicine:

This article was co-contributed by Tescha Nicholls and Montanna Waters, University of Melbourne Science Communication Students.

Left to right: Dr Sarah Gordon and PhD candidate Holly Melland