Jozef Gecz

Professor Jozef Gecz is a Professor of Human Genetics at the University of Adelaide, where he serves as the Head of Neurogenetics within the Adelaide Medical School, part of the Faculty of Health and Medical Sciences. He is the founding head of the Neurogenetics Research Program located at the Robinson Research Institute and Adelaide Medical School. His research program focuses on understanding brain function through gene discovery in intellectual disability, autism, epilepsy, and cerebral palsy.

Prof. Gecz's research interests span multiple areas of neurogenetics and human genetics. His work primarily focuses on gene discovery in intellectual disability (ID), epilepsy, and cerebral palsy (CP). His team has discovered or contributed to the identification of more than 350 disease genes, including AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, and many others. His research has revealed novel biological pathways essential for normal brain development and function, such as nonsense-mediated mRNA decay (NMD) and the transcription mRNA export complex (TREX). Current research focuses on functional interpretation of genetic variation using cell and molecular biology tools, including patient cell models and mouse models.

Prof. Gecz's publications span over two decades, with a consistent focus on gene discovery and functional characterization in neurodevelopmental disorders. His work has evolved from initial gene discovery to deeper functional analysis and therapeutic development. His most recent publications focus on animal models of disease genes (THOC2, PHF6), genetic etiology of cerebral palsy, and therapeutic approaches including antisense oligonucleotides. His research demonstrates a progression from basic gene discovery to translational applications, with increasing emphasis on developing pre-clinical therapeutic treatments.

• Founding head of the Neurogenetics Research Program at the Robinson Research Institute (2002)
• Established the Australian Cerebral Palsy Biobank (2014)
• Co-founded the International Cerebral Palsy Genomics Consortium (2017)
• Member of the ASID (Autism Spectrum/Intellectual Disability network) since 2014

Prof. Gecz has supervised numerous PhD and Master's students through the University of Adelaide. His research laboratory is strategically located within the Adelaide Biomedical Precinct, enabling rapid translation of research findings to clinical practice. His research has directly influenced diagnostic genetic analysis, with his team providing 50-100 diagnostic reports annually. Through collaborations with Diagnostic Molecular Genetics, Diagnostic Cytogenetics, and Clinical Genetics departments, his work has facilitated technology transfer including arrayCGH (2007), massively parallel sequencing (2010), and long read sequencing (2018).

Prof. Gecz leads the Neurogenetics Research Program at the University of Adelaide, which is situated within the Adelaide Biomedical Precinct. His laboratory works closely with the Royal Adelaide Hospital's and the Women's and Children's Hospital's diagnostic and clinical departments. The program includes collaborations with international consortia such as the International Genetics of Learning Disability Consortium (IGOLD), EURO MRX Consortium, and the Autism Spectrum/Intellectual Disability network (ASID). Since 2011, he has been a major driver in cerebral palsy gene discovery both in South Australia and internationally through collaborations with Baylor College of Medicine.