I am an assistant professor in Genetic Epidemiology of Multiple Sclerosis at the Department of Clinical Neuroscience. My scientific work aims to understand the pathomechanisms of neuroinflammation, particularly multiple Sclerosis (MS), by identifying the genetic architecture and understanding how functional effects of genetic variants contribute to disease. I have trained in sequence-based analysis to identify causative genetic variants (Wellcomme Trust Center for Human Genetics), and am experienced and skilled in human genetics. I have trained in advanced genetic analyses during three research visits at deCODE Genetics, Iceland, and have identified MS-risk variants by developing approaches that go beyond traditional genome-wide association. Since 2018, I have extended the human genetic MS studies to include low-frequency and rare variants and quantitative traits describing severity and progression of MS. My work is funded by Horizon2020 MultipleMS, the Margaretha af Ugglas Foundation, and Neurofonden.d treatment of persons with MS.
MS is a leading cause of incurable progressive disability in young adults, characterized by autoimmune destruction of myelin and neurons by inflammatory cells that periodically enter the central nervous system. The exact cause of MS is unknown, but environmental exposures likely trigger disease in those who are genetically predisposed. MS is highly heterogeneous with respect to paraclinical findings, clinical outcomes, and response to treatment, making the prognosis of both severity and progression essentially impossible at the time of diagnosis. The challenge of identifying disease-modifying factors and understanding their combined roles in a single individual is hampering the full potential of personalized medicine. The difficulty in making reliable prognosis of MS severity and progression leaves persons with MS with substantial uncertainty for years. A key aim of my work is to search for outcome predictors to ultimately increase the ability to offer prognosis.
My previous work has investigated the genetic architecture and functional genomics of neuroinflammation in experimental models and in patients. Genome-wide association (GWA) data from large case-control (1, 2) and within case cohorts (3) have been used to identify genetic determinants of MS susceptibility and severity, including rare variants (4), complemented by sequence-based approaches to elucidate causal MS variants in experimental models (5). The functional relevance of these genes and the mechanism by which they drive severity remains to be determined.
A primary purpose of my current work is to detect patients that are at higher risk of developing severe disability and then improve their long term outcomes by making individualized predictions regarding prognosis, rate of acceleration, and treatment responses possible. I propose to cluster MS patients based on genetic and environmental exposures to identify subsets of patients that capture different disease trajectories. I further propose to characterize the biological processes that drive disease acceleration in that specific patient group and determine the genetic burden, environmental exposures, clinical outcomes and biomarkers distinguishing each cluster. Furthermore, to support early initiation and selection of the most effective and relevant disease modifying treatments (DMTs) I will identify biomarkers of future disability accumulation that distinguish subgroups with fast disease acceleration. Translating the genetic architecture into a greater understanding of the mechanisms that cause and shape MS, and knowing which mechanisms are preventable or modifiable, will constitute a breakthrough for the clinical management and treatment of persons with MS.
1. Olafsson, S., et al., Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations. NPJ Genom Med, 2017. 2: p. 24.
2. International Multiple Sclerosis Genetics, C., Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. Science, 2019. 365(6460).
3. International Multiple Sclerosis Genetics Consortium, MultipleMS., Genetic analysis of multiple sclerosis severity identifies a novel locus and implicates CNS resilience as a major determinant of outcome. Research Square, 2022. https://assets.researchsquare.com/files/rs-1723574/v1/443bfffa-10cc-4aa…
4. Consortium, I.M.S.G., Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk. Cell, 2018. 175(6): p. 1679-1687 e7.
5. Rat Genome, S., et al., Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet, 2013. 45(7): p. 767-75.
I organize and run one doctoral course at Karolinska Institutet: Clinical and Experimental Neuroimmunology, 3200 (formerly 1627), 1.5hp (part of doctoral programmes allergy, immunology and inflammation (AII) and Neuroscience). This includes designing the course curriculum, ILOs, assignments and examinations, selecting external lecturers, and taking an active role as a lecturer, supervisor, demonstrator and examiner. I have organized this course 2013, 2015, and 2019.
I have also organized a course for Junior Faculty at Karolinska Institutet in collaboration with Career Services, “A practical guide to becoming an independent researcher at KI”, in 2015.
Besides that, I actively teach at other courses at undergraduate (läkarprogrammet termin 11), master (Master’s programme in biomedicine “Frontiers of Translational Medicine”) and doctoral levels (Cytokines in inflammation, 1626) at Karolinska Institutet. The types of teaching include: lecturing (“Miljö- epidemiologi vid MS” 45min, “MS genetik” 45min, “Genetic studies and epigenetics in neuroinflammation” 2x45min, “Animal Models” 2x45min, “Forward genetics” 1x45min and ”Introduction to qPCR” 2x45min), designing and performing practical demonstrations, supervising students’ seminars and discussions, and designing and supervising individual research projects.
Bachelor of Science in Psychology with cognitive neuroscience emphasis. Department of Psychology, Boise State University, USA.
Bachelor of Science in Biology with human biology emphasis. Department of Biology, Boise State University, USA.
Honors Thesis i Cognitive Neuroscience. The effects of neural insult on awareness level and cognitive processing during stroke. Department of Psychology, Boise State University, USA.
Short Term Fellow (EU FP6). Oxford University, Wellcome Trust Centre for Human Genetics, UK.
PhD in Experimental Neuroscience. Inheritance of autoimmune neuroinflammation. Dep Clinical Neuroscience, Karolinska Institutet, Sweden.
Short Term Fellow (EU FP7). Oxford University, Wellcome Trust Centre for Human Genetics, UK.
Research Exchange Fellow (Karolinska Institutet). deCODE Genetics, Iceland.
Academic honours, awards and prizes
Max and Edit Follins Foundation award
Lennmalms Prize and silver medal for research in neurology