Adelaide Neurogenetics Research Group
Mark completed his PhD at the University of Sydney (2004) working with transgenic mice with muscle diseases before moving to Adelaide to investigate the genetics of neurodevelopmental disorders including epilepsy, cerebral palsy and disorders of intellectual development.
Mark has a long history in the application of modern DNA and RNA sequencing techniques to implicate new genes in neurodevelopmental disorders including the first discovery of an epilepsy gene (TBC1D24) by short-read sequencing, and most recently identified the long-hidden repeat expansion which causes Familial Adult Myoclonic Epilepsy linked to chromosome 2.
His areas of expertise span bioinformatics, molecular biology and animal models. Collectively, his discoveries have led to genetic diagnoses for thousands of individuals living with neurodevelopmental disorders around the world and new insights into the molecular mechanisms behind these conditions.
Raman's research focuses on understanding the molecular pathways altered by the gene variants associated with causing neurodevelopmental disorders and neurodegeneration with an ultimate aim of using this knowledge for helping the patients and their families.
Raman has over 30 years of experience in molecular and cell biology. His research has been supported by funding from the Australian Research Council, the National Health and Medical Research Council, Channel 7 Children's Research Foundation, Women's and Children's Hospital Foundation, Cancer Council of South Australia, National Breast Cancer Foundation and Cancer Council Queensland during the past number of years.
In 2009, He was awarded a UICC Yamagiwa-Yoshida Memorial International Cancer Fellowship funded by the Union for International Cancer Control (Switzerland) to work at the Scripps Institute, San Deigo, USA, and in recognition to his outstanding contribution during this fellowship, he was inducted as a Life-time Honorary Fellow of UICC. During the past many years, Raman has published in journals such as JBC, Nature Medicine, Oncogene, Cancer Research, Am J Hum Genet, Mol Cell Biol, Current Biology. He is passionate about mentoring and teaching theoretical and practical aspects of vast area of molecular and cell biology to young students.
Understanding the normal development and function of the brain is challenging, but fundamentally important for science and medicine. Lachlan's approach is to identify and study the cell and molecular mechanisms of brain development and various forms of neurodevelopmental disorders. His major research focus is on mechanisms which regulate the levels of mRNA and protein in cells. In particular he is focused on understanding the roles of the Non-sense Mediated mRNA Decay (NMD) pathway, and the role of ubiquitin proteasome systems.
Clare is a current The Hospital Research Foundation Mid-career Fellow (2020-2022), working across the Neurogenetics and Adelaide Cerebral Palsy Research Groups at the Adelaide Medical School. Her research focuses on the contribution of genetic and epigenetic variation to neurodevelopmental disorders, particularly cerebral palsy.
She has expertise in the identification and classification of genetic variation using next generation sequencing technologies, including whole genome and whole exome sequencing, RNA sequencing and methylation sequencing, and the functional interpretation of these genetic findings using various techniques including animal and cell models.
The Adelaide CP group have been the driving force behind a growing acceptance that there is an underlying genetic cause for cerebral palsy in at least 25% of individuals. This has led to an explosion of studies seeking molecular and genetic markers for cerebral palsy, with the aim of identifying potential therapeutic targets and/or preventative strategies, as well as the formation of the International Cerebral Palsy Genomics Consortium (ICPGC) in 2017, of which she is a founding member.
Clare has made major contributions to the Adelaide Cerebral Palsy group’s pioneering publications, being the lead author on the group’s transcriptome and gene panel studies (van Eyk et al. Translational Psychiatry 2018, van Eyk et al. npj Genomic Medicine 2019), and a co-author on major international collaborations (McMichael et al. Molecular Psychiatry, 2015, Jin et al. Nature Genetics, 2020).
PhD / Masters Students
Ms Rebekah DeNys
Working PhD Title: Neurobiology of PCDH19 Clustering Epilepsy.
Mr Thomas Litster
Working PhD Title: Investigating novel methods to improve the identification of disease-causing variants involved in neurodevelopmental disorders.
Ms Nandini Sandran
Working PhD Title: Mosaicism in Cerebral Palsy.
Mr Rudrarup Bhattacharjee
Working PhD Title: Investigating the Role of TREX Nuclear mRNA Export in Neurodevelopmental Disorders.
Ms Emmylou Nicolas
Working Masters Title: Investigating the Pathogenicity of Aberrant Splicing in Transcriptionally Silent Genes using CRISPR/dCas9.
Ms Alexis Martin
Ms Tarin Ritchie
Mr Huy-Dat Pham
Ms Marie Shaw BSc Hons
Ms Alison Gardner BA
Ms Renée Carroll BSc
Ms Dani Fornarino BBiomedSc (Hons)
Ms Thessa Kroes BAppSc