Dr. Melinda Barkhuizen

Working with large-scale OMICs data (genomics, transcriptomics, proteomics, metabolomics) with biological focus on kidney and immunological diseases to identify novel drug targets and disease signatures in large patient cohorts.

Directed projects to develop high-content assays with in vitro iPSC-derived cellular models for neuroinflammation studies, and assembled causal biological network models to understand neuroinflammation pathways in transcriptomic datasets.

Consultant for the Pediatrics department on PhD work about the long-term effects of perinatal asphyxia.

My work at UCSF involved turning individual X-chromosome genes in induced pluripotent stem cell neurons off, with CRISPR, to find new genes important for neurodegeneration.

My research focused on the contribution of perinatal events to movement disorders later in life. The main findings of my PhD were that early-life events accelerate the presentation of Huntington's disease in large human cohorts. I also showed with a sheep model that the choice of anaesthetic given to a mother during labor can affect damage to the substantia nigra of the fetus. Finally I explored the long term behavioral effects of stem cell therapies in a rat model of perinatal asphyxia.

My PhD research in South Africa focused on identifying genetic risk factors for Parkinson's disease in the local population. I showed that mutations in the GBA-gene is a common risk factor for Parkinson's disease among patients with Afrikaner descent.

Neuroscience, transcriptomics, rodent behavior, statistics, large-dataset analysis, R-programming, histology

Human genetics, qPCR, collaborations, patient recruitment

Computational drug design