Pernilla Stridh

Pernilla Stridh

Researcher
Visiting address: L8:05, CMM Karolinska Universitetssjukhuset Solna, 17176 Stockholm
Postal address: K8 Klinisk neurovetenskap, K8 Neuro Kockum, 171 77 Stockholm
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About me

  • 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.
    Max and Edit Follins Foundation award
    Lennmalms Prize and silver medal for research in neurology
    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.

Research

  • 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-4aa8-bb10-693bfd887e5c.pdf?c=1658245923
    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.

Teaching

  • 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.

Articles

All other publications

Employments

  • Researcher, Department of Clinical Neuroscience, Karolinska Institutet, 2019-

Degrees and Education

  • Degree Of Doctor Of Philosophy, Department of Clinical Neuroscience, Karolinska Institutet, 2010

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