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Kerith-Rae Dias is a PhD student in Neurogenomics in Associate Professor Tony Roscioli’s lab. Her fascination with DNA led her to graduate with a Bachelor of Science in Genetics from the University of Auckland, New Zealand followed by a Master of Forensic Science from the University of Western Australia. Previously, Kerith-Rae has worked as a research scientist at Barts and the London Genome Centre, UK and more recently as Facility Manager at the Kinghorn Centre for Clinical Genomics at the Garvan Institute of Medical Research. Her role as Key Account Manager at Genome.One, a health information startup, gave her a broad understanding of the commercial landscape of genomic medicine. Kerith-Rae’s continued passion for translating genomics into healthcare is deeply aligned with the goals of her research project.
Neurocognitive disorders are one of the largest unmet challenges in healthcare, due to their lifelong nature, high management costs, prevalence and frequent recurrence within families. The objectives of this research will be to enhance fundamental knowledge about the genetic basis of neurocognition and the investigation of targeted treatment strategies in relation to biological pathways. Non-coding and copy number variation mechanisms will be explored along, with a study on variable expressivity and non-penetrance in specific syndromes. It will apply genomic technologies to a cohort of at least 200 families with neurocognitive disorders, develop bioinformatics tools and implement functional studies using induced pluripotent stem cells and CRISPR/Cas9 to explore the heterogeneity underlying the genetic aetiology of intellectual disability. The outcomes of this research could enable improvements in clinical phenotyping, genomic diagnosis, common data analysis and reporting standards.
Our study supports the integration of exome sequencing and gene panel testing into the diagnostic pathway for epileptic encephalopathy, both in terms of cost effectiveness and clinical utility. We propose a diagnostic pathway that integrates initial rapid screening for treatable causes and comprehensive genomic screening. This study has important implications for health policy and public funding for epileptic encephalopathy and other neurological conditions.