I am a medical doctor and PhD student investigating clinical and genetic aspects of sex chromosome disorders. The project focuses on organ development and growth in affected fetuses, early childhood development in affected children, and how variations in sex chromosome number influence epigenetic and genetic regulation of gene expression.

This PhD study is a part of a large-scale study with the overall aim to comprehensively map the epigenomic and genomic natural history of sex chromosome aneuploidies to provide insight into the SCA specific molecular pathways and create the basis for answering the fundamental question how altered sex chromosome dosage impact epigenetic gene regulation in the placenta, in utero, during organ development, in the newborn and in the child with SCA and link that to the phenotype seen in SCAs.

As part of my PhD training, I am required to complete a minimum of 150 hours of teaching. I teach medical students in communication skills as well as in the management and care of the acutely ill patient.

I am responsible for patient recruitment, coordination of experimental days, data and sample collection, data analysis, and manuscript writing.  I am responsible for conducting anthropometric measurements, PEA POD assessments and I  perform fetal MR scans in collaboration with my co-supervisors.