Rob Richards

Professor of Genetics

The University of Adelaide

Professor Richards joined The University of Adelaide as an Associate Professor in 2001 and was promoted to Professor in 2008. Prior to this he was Chief Molecular Geneticist at the Women’s and Children’s Hospital, Adelaide where he had commenced employment in 1989. This followed 4 years as a Senior Research Fellow at the Howard Florey Institute at the University of Melbourne (1985-1989) and this was preceded by 4 years as a Research Fellow at the Australian National University, Canberra (1981-1985). His laboratory’s research focus is on the use of animal models to define the pathogenic pathways responsible for the clinical manifestations of genetic diseases, particularly neurodegenerative diseases. Most of these models are in Drosophila with some collaborative work in zebrafish. His experimental results and a growing list of research publications from other laboratories reveal that neurodegenerative diseases have genetic hallmarks of autoinflammatory disease that therefore provides a plausible common pathogenic mechanism. His current research is aimed at testing this ‘neurodegeneration is an autoinflammatory disease’ hypothesis. His previous research at the Women’s and Children’s Hospital was focused on the identification of disease genes and the mechanisms of their mutation, particularly those diseases caused by unstable expanded repeats including Huntington’s Disease and Fragile X Syndrome. His laboratory identified the CCG repeat expansion causing Fragile X Syndrome before the FMR-1 gene was identified (Science 252: 1179-1182 and Science 252: 1711-1714). He characterized important properties of expanded repeat mutations that together account for the non-Mendelian transmission characteristics of the diseases they cause, notably ‘genetic anticipation’. He coined the term Dynamic Mutations to define and distinguish this class of expanded repeat mutations, and maintain the entry on this subject in Brenner's Online Encyclopedia of Genetics.