Dr Nicole Van Bergen

Biography
Research

Biography:

My major interest is to address fundamental molecular questions relating to orphan neurodevelopmental diseases to aid in the development of new therapeutics. My major focus is on understanding the molecular consequences of neurodevelopmental disorders and developing new therapeutics to treat these debilitating disorders. As part of my broader research, I am leading the molecular characterisation on several new candidate genes associated with neurodevelopmental disorders. I have always had a strong desire to contribute my knowledge and experience as a molecular biologist to improving the health outcomes of children by uncovering the molecular basis of rare diseases. My ultimate goal is for my research to improve the clinical diagnosis and treatments available for families suffering rare hereditary diseases.

Research:

Investigations into disease pathomechanisms are often limited by access to affected tissues and cells, such as brain cells. For this reason, the mechanisms leading to disease are often poorly understood. We are using pluripotent stem cell model systems differentiated into neurons to investigate the tissue-specific disease mechanisms behind several neurological and mitochondrial conditions. We use pioneering techniques to unravel molecular pathways in these disease relevant cell lineages using functional analyses of mitochondrial and specific cellular pathways, transcriptomics and quantitative proteomics.

We have established a range of human pluripotent stem cell (hPSC) and other model systems that will be utilized in screens aiming to improve therapeutic options in disorders that lack effective treatments. The MCRI Disease Modelling Facility provides access to compound libraries and state of the art equipment for high-throughput drug screening and monitoring outcomes.

Projects:

Sort