A medical molecular geneticist specialized in structural variants, repetitive regions and rare neuromuscular disorders. The development and application of new diagnostic methods and uncovering novel mutational mechanisms lie in the center of my work.
In patients with rare disorders lacking a molecular diagnosis, we apply the latest PacBio long-read sequencing technology and Bionano optical genoome mapping to find and characterize causative structural variation. The project is part of the SolveRD effort.
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 was performed collaboration with Stephan Lange's group at the University of California San Diego and is now continued as part of a Masters thesis project.
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. Thesis available online on Helda.
Major in human genetics, minor in physiology. Thesis available online on Helda.
Major in genetics, minor in cell and molecular biology
Read more about the group on the group's website.
Read more about the group on the group's website or Folkhälsan's pages.
Read more about the group on the group's website.
Read more about the group on the group's website or Folkhälsan's pages.
My main skills and expertise lie in genomic copy number and structural variation analysis (specifically aCGH, ddPCR, and long-read sequencing). I also have extensive experience in cell culture based functional protein studies, including High Content Screening. To complement my methodological knowledge, I have studied statistics and R to support my data analysis skills and university pedagogy (20 ECTS) to support my teaching and supervision interests. As a side project, I developed the new webpages for my past reseach lab (including HTML, CSS, PHP).
Under my personal Business ID, I have provided translation services to and/or from all the languages listed below since 2017. I mainly provide services for educational and marketing purposes for companies of different sizes. For business enquiries, please contact me per e-mail.
Most of my free time is spent with horses - I have a 10-year-old shetland-cross mare and a Finnish warmblood colt born in 2023. In my free time I also enjoy various forms of art - I enjoy playing music myself and I am a member of the amateur choir It's a Kuoro. I am a fan of all kinds of activities - I acquired my CMAS P1 in Finland in spring 2019 and went on to earn my NAUI Advanced Diver certificate in Hawaii in March 2020, and have been a geocacher since 2012. I have ran the Helsinki City Run half marathon in 2012 and 2022, and am currently set on completing the Nijmegen Four-day March in 2024.