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Neurogenetics

We aim to uncover causes and risk factors of neurological diseases, and to characterize factors contributing to effect and side effects of treatment.

We focus on identifying and characterizing molecular biomarkers for conditions such as epilepsy, movement disorders, musculoskeletal diseases, pain, and drug teratogenicity.

This research is carried out by leveraging extensive clinical and multi-omics data from patients, clinical trials, large databases like MoBa and HUNT, and functional studies on neuronal and brain development.

Our goal

By identifying the underlying causes of these conditions and translating our findings into personalized treatment strategies, we ultimately aim to enhance patient care and outcomes.

Our long-term goal is to optimize the diagnosis and treatment of neurological diseases through improved understanding of their molecular underpinnings.

We aim to reveal causes and risk factors of neurological disease, and to identify molecular biomarkers that can stratify patients, predict disease onset, progression, and response to treatment.

By integrating multi-omics data (e.g. genetics, epigenetics, transcriptomics and metabolomics) and insights from functional studies, we will develop personalized medicine approaches, which tailor treatments to individual patient profiles.

Ultimately, our research strives to significantly enhance patient care and outcomes, ensuring more effective and targeted therapies for neurological conditions.

Omics-data in web application

In order to look up data for all genes, generate different plots or replicate findings, we provide access to all our omics-data used in our studies through two apps in NeuroOmicsExplorer.

Projects

  • TeraEpi: Teratogenicity of anti-seizure medication: the roles of epigenetics and folic a   cid supplements.
    Investigating the teratogenicity of anti-seizure medication through exploring genetic and epigenetic data from children born from mothers with epilepsy in the MoBa cohort. A PhD and a post-doc work on this project, supported by the Norwegian Research Council.
  • FORCE: Focal Refractory Childhood Epilepsy - A study of surgical treatment in Norway - aetiology and prognostic factors.
    Characterization of pediatric epilepsy and surgery in Norway, and investigation of somatic, genetic mutations causing focal cortical dysplasias in this patient group. A PhD student works on this project. Supported by Stiftelsen DAM, Epilepsiforbundet, Barnestiftelsen and the National Advisory Unit on Rare Disorders.
  • Dietary treatment of adult patients with epilepsy.
    Data from an RCT is explored to identify underlying factors (including epigenetic, metabolomic and clinical/psychological) of treatment response of dietary treatment. A post-doc is working on this project. Supported previously by Stiftelsen DAM, now by the National Advisory Unit on Rare Disorders.
  • Dietary treatment of children with epilepsy.
    Aiming to identify underlying molecular factors influencing treatment success. Previously supported by Stiftelsen DAM, the National Advisory Unit on Rare Disorders and Epilepsiforbundet.
  • BIOJUME: Biology of Juvenile Myoclonic Epilepsy. Genetics and epigenetics of juvenile myoclonic Epilepsy.
    International epilepsy consortium and collaboration, investigating genetic and epigenetic risk factors of JME.
  • Clinical and molecular characterization of hereditary ataxia and hereditary spastic paraplegia.
    Investigating clinical and molecular aspects of monogenic movement disorders, such as hereditary ataxia and spastic paraplegia. A PhD student is working on this project. The project is supported by the National Advisory Unit on Rare Disorders.
  • BRUFUS: User involvement in research of rare disorders.
    This study aims to characterize the extent and impact of user involvement in research of rare disorders in Norway, and to identify factors associated with fruitful user involvement. A post-doc is working on this project, and it is supported by the National Advisory Unit on Rare Disorders.
  • Deciphering molecular causes of pain: A study of neuropathic pain.
    Through integrated analysis of multi-omics data, this project aims to identify molecular mechanisms explaining why some patients with neuropathy experience pain, whereas others do not. A post-doc is working with this project, which is supported by the Norwegian Research Council, as part of the Work Package 3 in the ReMeDy research center (Center for Treatment of Rheumatic and Musculoskeletal Diseases).
  • epiNOR-MS: Identification of epigenetic biomarkers for treatment response in MS.
    This study aims to identify predictive biomarkers of treatment response and treatment-induced secondary effects of cladribine or rituximab.
    These analyses are performed in peripheral whole blood and B cells isolated from MS patients enrolled in the NOR-MS clinical trial. One PhD student is working on this project, which is funded by Stiftelsen DAM and MS forbundet.
  • UIO:RealArt: Real world – artificial worlds: Improving causal inference in perinatal pharmaco- epidemiology using machine learning approaches on real-world and artificial data.
    A convergence environment funded by UiO:Life Science, University of Oslo. Two PhD students and two post docs are working within the environment.
    We are actively involved and lead projects investigating the role of genetics and epigenetics on drug exposure-outcomes associations, determining how machine learning techniques can be used to detect non-linear relations, and make use of genetic and epigenetic biomarkers to strengthen causal inference in perinatal epidemiological studies.

Cooperation

The group cooperates with several partners, både nationally og internationally.

National

  • Marte Bjørk, University of Bergen
  • Ida K. Haugen, Diakonhjemmet Hospital/ReMeDy
  • Hedvig Nordeng, UiO
  • Geir Kjetil Sandve, UiO
  • Magnar Bjørås, NTNU and UiO
  • Marte Roa Syvertsen, Drammen Hospital, Vestre Viken Hospital Trust
  • National Center of Competence for Rare Epilepsy Related Diagnoses, Oslo University Hospital

International

  • Christoph Beier, Odense University, Denmark
  • Rikke Møller, University of Copenhagen, Denmark
  • Guido Rubboli, University of Copenhagen, Denmark
  • Deb Pal, King’s College London, UK
  • Lisa Strug, University of Toronto, Canada
  • Striano Pasquale, University of Genova, Italy
Published June 13, 2024 1:24 PM - Last modified June 19, 2024 11:20 AM

Contact

Group Leader

Participants

Detailed list of participants