Jozef Gecz

Biography

Professor Jozef Gecz is an Australian NH&MRC Senior Principal Research Fellow and Professor of Human Genetics at the University of Adelaide. He is the founding head of the Neurogenetics Research Program located at the Adelaide Women's and Children's Hospital. 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 100 different disease genes (e.g. AFF2, ARX, PHF6, CDKL5, PCDH19, TBC1D24, GOSR2, UPF3B, HCFC1, IQSEC2, RNF113A, STAG2, USP9X or THOC2). Many of these genes pointed to new and unexpected biological pathways essential for normal brain function (e.g. non-sense mediated mRNA decay, NMD). 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.

Research Interest

Medicine,Medical Education,Research,etc