Jozef Gecz

Professor Jozef Gecz

Head Neurogenetics

Adelaide Medical School

Faculty of Health and Medical Sciences

Eligible to supervise Masters and PhD - email supervisor to discuss availability.


Professor Jozef Gecz is Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability and Australian NH&MRC Senior Principal Research Fellow at the University of Adelaide.

He is the founding head of the Neurogenetics Research Program located at the Medical School, the University of Adelaide. The broad research aim of his group is to further understanding of brain function through the identification and characterisation of genes with naturally occurring mutations in patients with intellectual disability, autism, some, primarily monogenic, forms of epilepsy and cerebral palsy. His team discovered or contributed to the discovery of more than 200 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X, THOC2, GPKOW, or ZSWIM6). Many of these genes pointed to new and unexpected biological pathways essential for normal brain development and function (e.g. non-sense mediated mRNA decay, NMD or nucleo-cytoplasmic mRNA export). The current focus of his research is in the functional interpretation of genetic variation, coding and non-coding, identified with next generation genomic technologies, using various cell and molecular biology tools, including patient cell (including stem cell) and animal models.

Prof Gecz is a basic scientist who has built his career at the interface between fundamental ‘breakthrough’ science and health care delivery, i.e. in medical schools and hospitals. His seminal discoveries are primarily in disease gene discovery (>100 disease genes identified) and understanding of their function with the aim of improved diagnosis and management plus development of mechanism based therapies.

Gene discovery in Intellectual disability (ID): Prof Gecz identified the first gene for non-syndromic ID, the FMR2 (or AFF2) gene in 1996 (Nature Genetics), which he followed with 10 other publications on the role of AFF2. AFF2 is the most frequently mutated gene in mild to borderline ID. Many other major ID gene discoveries followed, including ARX (Nature Genetics, 2002 and 27 other articles), PHF6 (Nature Genetics, 2002 and 8 other articles), UPF3B (Nature Genetics 2007 and 9 other articles) and IQSEC2 (Nature Genetics 2010 and 2 other articles).

Most recently Prof Gecz’s pioneering research has delved into the role of non-coding regulatory mutations causing ID. He identified a mutation in HCFC1 in a large Australian family with non-syndromic ID, which had eluded 3 generations of scientists and clinicians for more than 40 years (Am J Human Genet 2012).  While initially regarded as a somewhat separate field to epilepsy genetics, discoveries in intellectual disability by Prof Gecz and others, are showing increasing overlap with epilepsy, explaining their not infrequent co-occurrence.

Image of neurons.

Gene discovery in Epilepsy: Prof Gecz began working on the genetics of epilepsy per se in 1994 as a postdoc in the laboratory of Profs John Mulley and Grant Sutherland, where the first epilepsy genes were discovered. His focus has been primarily on the X-chromosome and non-ion channel epilepsy gene identification. Among his seminal epilepsy gene discoveries are CDKL5 (Am J Human Genet 2004 and 6 other publications); PCDH19 (Nature Genetics 2008 and 2 other publications); TBC1D24 (Am J Human Genet 2010 and 3 other publications), which has now also been found in DOORS syndrome (Deafness-sensorineural, Onycho/Osteodystrophy and Seizures) and non-syndromic deafness; GOSR2 (Am J Human Genet 2011) and most recently USP9X, a doublecortin interacting protein (Plos One 2013 and Am J Human Genet 2013). Prof Gecz’s group was the first one to implement massively parallel sequencing to epilepsy gene discovery, which yielded, in addition to TBC1D24 and GOSR2 also other major epilepsy genes, i.e. PRRT2 (Am J Human Genet 2012), KCNT1 and DEPDC5 (Am J Human Genet 2012, Nature Genetics, 2013; Annals Neurology 2014).

Gene discovery in Cerebral palsy (CP): CP is also co-morbid with epilepsy. Prof Gecz has recently engaged in gene discovery in CP, a disorder thought to be primarily due to perinatal trauma. In addition to the CP-involved genes he has already published (NKX2.1, Eur J Med Genet 2013; ZC4H2, Am J Human Genet 2013) he recently directed a large whole exome sequencing study of 183 CP patients and their parents (500 exomes, under review). This study (Mol Psych 2015 shows that 1 in 6 CP patients may have a genetic etiology, potentially a major paradigm shift in the field with broad implications for medicine.

Unusual Genetic Mechanisms: Prof Gecz has a major interest in unusual genetic mechanisms of disease, including fragile sites.  He discovered three fragile sites and five fragile site-associated genes (FMR2, FMR3, FRA10AC1, FAM11A or AFF3). He identified the gene for X-linked spondyloepiphyseal disaplasia tarda, SEDL (Nature Genetics 1999), discovery of which was featured in the 2001 International Human Genome Sequencing Consortium Nature paper as an example of how the availability of the human genome sequence would speed up human disease gene discovery (it took 3 months to progress from disease mapping to gene identification).

From gene discovery to gene function and therapy: Over the last 5 years, Prof Gecz’s gene discovery work (and the makeup of his research group) has been increasingly and purposefully complemented with more in depth cellular and molecular biology functional studies and animal models. He has embarked on the application of stem cell technologies (mouse embryonic stem cells; adult neuronal stem cells, human iPS cells) to enhance understanding and modeling of human neurological disease. Successes in this area include expression studies suggesting HCFC1 is a potent regulator of embryonic neuronal development (Hum Mol Genet 2015), investigation of UPF3B-dependent nonsense mediated mRNA decay showing UPF3B regulates neural progenitor cell behaviour and neuronal outgrowth  (Human Mol Genet 2013), using a conditional knockout mouse model to show USP9X plays an important role in cortical architecture  (Plos One 2013).

Image of iPS cell derived neurons.

Enabling and External Collaborations: Prof Gecz has been instrumental in establishing and contributing to a number of major international consortia to facilitate research and translation. These include the International Genetics of Learning Disability Consortium (IGOLD, with Prof Sir Michael Stratton, Director Wellcome Trust Sanger Institute) and the EURO MRX Consortium to identify X-linked ID genes (with Prof Hilger Ropers). Locally, Prof Gecz established the Neurogenetics Research Program at the Women’s and Children’s Hospital and The University of Adelaide in 2002 and has made significant contributions to the Genetics of Learning Disabilities services in South Australia and NSW. Since 2011 he is a major driver in gene discovery in Cerebral Palsy (CP group in South Australia with Prof. A MacLennan) and internationally (Prof. R Gibbs at Baylor College of Medicine). He is a member of the ASID (Autism Spectrum/Intellectual Disability network) established in 2014 and led by Prof E Eichler (Uni Washington, Seattle, USA).

Prof Gecz’s research laboratory is strategically located within the Adelaide Women’s and Children’s Hospital, in immediate proximity to the Diagnostic Molecular Genetics, Diagnostic Cytogenetics, Clinical Genetics (SA Pathology), Neurology and Paediatric departments. His research into genetics of human childhood neurological disorders is rapidly translated to improved patient care via provision of diagnostic genetic analysis reports (50-100 reports annually), expert advice regarding cytogenetic and molecular genetics enquiries (1-2 local, national & international enquiries weekly), or technology transfer from the research domain to use in clinical care (e.g. arrayCGH in 2007 and more recently massively parallel sequencing for targeted and whole exome or genome sequencing).

Prof Gecz sees the big picture challenges of his research as being i) a deeper understanding of the genetics and biology of neurological disorders (epilepsy, ID, autism and CP) and ii) the efficient and timely translation of research results to facilitate improved outcomes for those affected by these conditions. He is a passionate advocate of medical research and its importance in the future of our society, for our health, education and our economy.

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  • Appointments

    Date Position Institution name
    2017 Associate Editor American Journal of Human Genetics American Society of Human Genetics
    2016 Non-executive Director Telethon Kids Institute
    2016 - 2020 Chair in the Prevention of Childhood Disability The University of Adelaide
    2015 Fellow Australian Academy of Health and Medical Sciences
    2013 - 2018 Senior Principal Research Fellow NHMRC
    2010 Founding Fellow of the RCPA Faculty of Science (FFSc(RCPA)) Royal College of Pathologists of Australasia
    2009 Professor of Human Genetics The University of Adelaide
  • Language Competencies

    Language Competency
    Czech Can read, write, speak, understand spoken and peer review
    French Can read, speak and understand spoken
    Russian Can read, write and understand spoken
    Slovak Can read, write, speak, understand spoken and peer review
  • Education

    Date Institution name Country Title
    1993 Slovak Academy of Sciences Slovakia PhD
    1986 Comenius University in Bratislava Slovakia RNDr
    1986 Comenius University in Bratislava Slovakia Hons
  • Postgraduate Training

    Date Title Institution Country
    1991 - 1993 PhD INSERM France
  • Research Interests

Current Competitive Research Funding

International Competitive Schemes

Date Project/No. Investigators Funding Body Amount
2016   Gecz J, Thomas P Insieme per la Ricerca PCDH19 – ONLUS $50,000
2016   Thomas P, Gecz J PCDH19 Alliance, USA $50,000

National Competitive Schemes

Date Project/No. Investigators Funding Body Amount
2013-2016 1063808 Gecz J, Jolly L, Wilkinson M NHMRC $763,953
2016-2020 1091593 Berkovic S, Jackson G, Gecz J, Connelly A, Scheffer I, O'Brien T, Petrou S, Calamante F, Reid C NHMRC $16,110,330
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  • Current Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2019 Principal Supervisor Neurology of PCDHl9Girls Clustering Epilepsy Doctor of Philosophy Doctorate Full Time Miss Rebekah Taylor de Nys
    2017 Co-Supervisor Genetic and Environmental Interactions in the Causation of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Ms Sayaka Kayumi
    2016 Principal Supervisor Variable clinical and molecular expressivity of PCDH19 mutations Doctor of Philosophy Doctorate Full Time Miss Kristy Louise Kolc
    2016 Principal Supervisor Developing a Fluorescent NMD Reporter for use in Cells and Mice Doctor of Philosophy Doctorate Full Time Miss Deepti Dianna Domingo
    2014 Principal Supervisor The Role of UPF3B and Nonsense Mediated mRNA Decay Surveillance in the Pathology of Intellectual Disability Doctor of Philosophy Doctorate Full Time Miss Debrah Sadie Renders
  • Past Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2014 - 2018 Co-Supervisor The Genetic Basis of Malformation of Cortical Development Syndromes: Primary Focus on Aicardi Syndrome Doctor of Philosophy Doctorate Full Time Miss Thuong Thi Ha
    2013 - 2017 Co-Supervisor Investigating the Pathogenic Mechanism of Expanded Polyalanine Tract Mutations in the ARX Homeobox Transcription Factor Causing Intellectual Disability Doctor of Philosophy Doctorate Full Time Tessa Renee Mattiske
    2013 - 2017 Co-Supervisor Disruption of Cell-Cell Adhesion Codes Underlies The unique X-Linked Inheritance Pattern of Protocadherin 19 Girls Clustering Epilepsy Doctor of Philosophy Doctorate Full Time Daniel Tyler Pederick
    2012 - 2017 Principal Supervisor Neurobiology of PCDHI9-Female Epilepsy Doctor of Philosophy Doctorate Full Time Dr Claire Homan
    2012 - 2016 Principal Supervisor The Genetic Determinants of Cerebral Palsy Doctor of Philosophy Doctorate Full Time Dr Gai McMichael
    2011 - 2013 Principal Supervisor The Role of UPF3B and the Nonsense-Mediated mRNA Decay Pathway in Pathology of Intellectual Disability Doctor of Philosophy Doctorate Full Time Mr Sonny Nguyen
    2007 - 2010 Co-Supervisor Molecular Mechanisms in the Epilepsies of Infancy Doctor of Philosophy Doctorate Full Time Ms Sarah Heron
    2006 - 2009 Co-Supervisor Ascertainment, Diagnostic Evaluation and Gene Mapping of South Australian Families with Possible X-Linked Mental Retardation Master of Clinical Science Master Full Time Dr Zahiya Abdulhameed Ahmed Al Raisi
    2006 - 2010 Principal Supervisor Molecular Genetics of Epilepsy and Mental Retardation Limited to Females (EFMR) Doctor of Philosophy Doctorate Full Time Dr Kim Hynes
    2005 - 2012 Principal Supervisor The Role of Aristaless Related Homeobox (ARX) Gene Mutations in Intellectual Disability Doctor of Philosophy Doctorate Full Time Mr Tod Fullston
    2002 - 2006 Principal Supervisor Molecular Basis for Intellectual Disability and Epilepsy: Role of the Human Homeobox Gene ARX Doctor of Philosophy Doctorate Full Time Ms Desiree Cloosterman
    2000 - 2003 Principal Supervisor Identification and Characterisation of the Gene for Borjeson-Forssman-Lehmann Syndrome Doctor of Philosophy Doctorate Full Time Ms Karen Lower
    2000 - 2003 Principal Supervisor Identification of Novel Genes for X-linked Mental Retardation Doctor of Philosophy Doctorate Full Time Ms Marie Mangelsdorf
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  • Board Memberships

    Date Role Board name Institution name Country
    2018 - 2023 Board Member Board of Representatives European Society of Human Genetics Austria
    2015 - ongoing Director Telethon Kids Board of Directors Telethon Kids Australia
  • Committee Memberships

    Date Role Committee Institution Country
    2018 - 2020 Member Human Genome 2020 Meeting Human Genome Organisation Australia
    2017 - 2019 Member World Congress of Psychiatric Genetics 2019
    2015 - ongoing Member Telethon Kids Scientific Advisory Council Telethon Kids Institute Australia
    2010 - ongoing Member Lorne Genome ASN Australia
  • Memberships

    Date Role Membership Country
    2017 - ongoing Member Australian Academy of Science Australia
    2015 - ongoing Member Australian Academy of Health and Medical Sciences Australia
    2010 - ongoing Member Royal College of Pathologists of Australasia (RCPA) Australia
    2003 - ongoing Member National Association of Research Fellows Australia
    2001 - ongoing Member Australian Society for Medical Research (ASMR) Australia
    1995 - ongoing Member American Society of Human Genetics United States
    1994 - ongoing Member Human Genetics Society of Australasia Australia
    1994 - ongoing Member European Society of Human Genetics
    1992 - ongoing Member Human Genome Organisation
  • Consulting/Advisories

    Date Institution Department Organisation Type Country
    2015 - ongoing Marinus Pharmacetuticals Inc Business and professional United States
  • Editorial Boards

    Date Role Editorial Board Name Institution Country
    2017 - ongoing Associate Editor American Journal of Human Genetics United States
    2016 - ongoing Associate Editor Genomic Medicine Canada
    2015 - ongoing Board Member Twin Research and Human Genetics Australia
    2012 - ongoing Board Member Molecular Autism Australia
    2011 - ongoing Board Member Medical Genomics Faculty 1000 Australia
    2009 - ongoing Board Member Clinical Genetics: an international journal of genetics and molecular medicine Australia
    2006 - 2012 Board Member Annals of Human Genetics Australia
  • Position: Head Neurogenetics
  • Phone: 83132453
  • Email: jozef.gecz@adelaide.edu.au
  • Campus: North Terrace
  • Building: Adelaide Health and Medical Sciences, floor 8
  • Room: WS8068.01
  • Org Unit: Adelaide Medical School

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