Geneticist honoured for major disability discoveries

Monday, 22 May 2017

An Adelaide geneticist who has led several groundbreaking discoveries in the field of intellectual and physical disability has been elected as a Fellow of the Australian Academy of Science.

Professor Jozef Gécz, Head of Neurogenetics with the University of Adelaide's Robinson Research Institute, and member of the Healthy Mothers, Babies and Children theme at the South Australian Health and Medical Research Institute (SAHMRI), is one of 21 Australian researchers to be newly elected to the Academy.

This is the nation's highest honour in science, recognising outstanding research at an international level.

Professor Gécz is a laboratory scientist whose work sits at the interface between fundamental science and health care delivery.

For three decades, Professor Gécz and his research team have discovered or contributed to the discovery of more than 150 genes that either directly cause or are linked to neurodevelopmental disorders in patients with intellectual disability, autism, epilepsy and cerebral palsy.

His research has helped to further the world's understanding of brain function through the identification and characterisation of naturally occurring mutant genes that cause these conditions. Many of these genes point to new and unexpected biological pathways essential for normal brain function.

Professor Gécz began working on the genetics of epilepsy in 1994 as a postdoctoral researcher at the Women's and Children's Hospital, Adelaide. In 1996, he identified the first gene for mild to borderline intellectual disability that was otherwise not associated with any signs or symptoms.

"While initially regarded as a somewhat separate field to epilepsy, our discoveries in intellectual disability genetics have shown increasing overlap with epilepsy. This helps to explain their frequent co-occurrence," Professor Gécz says.

Some of his key discoveries include:
• identifying neurodevelopmental disease genes on the human sex chromosome X, affecting males as well as females
• revealing that even identical mutations of the same gene can give rise to different forms of neurodevelopmental disability
• with the Australian Collaborative Cerebral Palsy Research Group, showing that 1 in 4 cases of cerebral palsy may have a genetic origin
• identifying unusual mutational mechanisms and biological pathways underlying neurodevelopmental disabilities
• proposing a treatment for a debilitating form of epilepsy that affects girls only.

"In recent years, we've developed a stronger focus beyond gene discovery towards better understanding the role and functions of the genes, and how that might impact on therapy for patients," Professor Gécz says.

"This field is very exciting and, thanks to great leaps forward in technology over the years, we have been able to make some real progress into better understanding how to prevent and manage serious neurodevelopmental disorders.

"These conditions can be devastating for individuals and entire families, therefore it's important for our research team to make the strongest possible impact we can. We are always striving to translate our laboratory work into new knowledge that is relevant for patients, their families and health professionals," he says.

Professor Gécz says he is honoured to become a Fellow of the Australian Academy of Science.

"I am humbled by the Academy's decision, but I am thrilled that this also honours the work of my colleagues and my team, and it recognises the field of genetics in helping to unravel the mysteries of neurodevelopmental disorders," he says.

Professor Gécz is also an NHMRC Senior Principal Fellow and winner of the Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability.

The rare honour will be formally bestowed on him along with 20 other Australian researchers at a ceremony in Canberra tonight, organised by the Australian Academy of Science.

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