The development of stem cell technology and our ability to differentiate pluripotent cells into desired cell lineages revolutionized the way we study disease, particularly neurological disease for which there is no easy access to relevant cell types in a living individual. Not only has this technology provided us with mechanistic insights into brain development and disease, it has also facilitated the generation of representative preclinical models for drug screening. When combined with other modern scientific technologies, such as massively parallel sequencing and gene editing technologies, these approaches have produced a powerful toolkit enabling scientists to make critical scientific advances that are improving the lives of affected individuals. 

My research in the Kruer Laboratory utilizes this toolkit to better understand the cause of and molecular mechanisms leading to cerebral palsy. Conventionally, cerebral palsy is attributed to a consequence of prematurity or another environmental factor such as hypoxia-ischemic injury. While these factors are established as the cause of cerebral palsy in many patients, they are not considered causative for a significant minority of affected individuals. This ‘missing etiology’ is hypothesized to arise from genomic abnormalities. By combining detailed clinical data with modern stem cell and genomic technologies, I hope my research will provide critical insights that will one day help provide life-changing treatments to individuals living with cerebral palsy.

Dr. Marsh completed her Ph.D. at The University of Melbourne and Murdoch Children’s Research Institute under the supervision of Associate Professors Paul Lockhart and Richard Leventer. To see a complete record of her research, please click here.