Sandra Cooper Email and Phone Number

Experienced Professor of Genomic Medicine with deep mechanistic expertise in neuroscience, clinical genomics and pathogenic RNA mis-splicing. RESEARCH VISION: Identify the genetic basis and mechanism of disease in children affected with rare neurological disorders and inform evidence-based therapeutic interventions. Lead the critical research to enable new genomic technologies to enter routine clinical practice, to extend diagnostic rates from genomic testing, and revolutionise personalised Healthcare options for affected individuals and their families. SYNOPSIS: A molecular diagnosis is the crucial turning point for individuals and families affected by genetic rare disorders. It opens doors to personalised clinical care, tailored to anticipate and prevent complications associated with the affected individual’s specific disease, allows genetic counselling for the wider family unit, and informs family planning to help diminish anxiety regarding disease recurrence. In some instances, a genetic diagnosis can highlight the clinical utility of an available treatment.Over the last 5 years my genomics research has provided genetic answers for > 300 families who remained undiagnosed by current genomic diagnostics, identifying novel disease genes and novel classes of pathogenic variants - lending new fundamental insight to biology, as well as providing an explanation, name and insight into a genetic condition for affected families. My current major focus lies in development of novel informatics and technical pipelines to interpret DNA variants that alter pre-mRNA splicing. I currently lead a national program to embed RNA diagnostics into clinical practice across Australasia, called RNA for Rare Disease (RNA4RD). RNA4RD is the Health Services Implementation arm of a larger consortium for which I am Founder-Chair, the Australian Consortium for RNA Diagnostics, or SpliceACORD, now with 150 genetic experts spanning all disciplines in the genetic pathology pathway. My deep expertise in disease-associated anomalies in RNA now feeds a new research agenda focussed upon development and pre-clinical evaluation of splice-modulating, personalised and individualised therapeutics.