I aim to be part of the advancements in the field of molecular medical genetics, with a specialization in disorders affecting the muscular system. The development of new diagnostic methods and uncovering the functional mechanisms of neuromuscular disorders lie in the center of my work.
Variants in the Y-box binding protein 3 (YBX3) gene have been connected to Nemaline myopathy. To better understand the impact of these variants, we are working on localization and interaction studies of the wild-type protein and the variants. Part of the work is being done in collaboration with Stephan Lange's group in California.
Titin and nebulin, two gigantic sarcomeric proteins, both contain segmental duplication regions in their sequences, and harbor both normal and pathogenic copy number variation. These blocks are challenging to analyze by both Comparative Genomic Hybridization array methods - therefore we are developing ddPCR based assays for the analysis of these regions. The method is under validation, and will be subject for a manuscript in the near future.
The extended CGH-array design that we developed covers 178 genes related to neuromuscular disorders, covered at a high tileage. The array constitutes a robust method for copy number variant analysis for diagnostics of neuromuscular disorder patients, and also covers the segmental duplication regions of both nebulin and titin.
Doctoral School of Health Sciences, Doctoral Programme of Integrative Life Sciences
Subjects: Biological imaging techniques, statistics and R, university pedagogy.
Major in human genetics, minor in physiology. Thesis available online on Helda.
Major in genetics, minor in cell and molecular biology
My main skills and expertise lie in genomic copy number variation analysis (specifically aCGH and ddPCR) and cell culture based functional protein studies, including High Content Screening. To complement these, I study statistics and R to support my data analysis skills and university pedagogy to support my teaching interests. As a side project, I'm developing the new webpages for our reseach group (including HTML, CSS, PHP).
In my free time I enjoy horseback riding and various forms of art - I also enjoy playing music myself (much to the disdain of my neighbors). I am an active member of the amateur choir It's a Kuoro and Symbioosin kuoro. As of spring 2019 I am also pursuing the CMAS one-star diving certification.