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Genomic epidemiology of age-related diseases with special focus on dementia and cardiovascular risk factors and diseases

We investigate causal aspects of risk factors and biomarkers for dementia and cardiovascular disease with focus on risk prediction, Mendelian randomization (MR), meta-analyses, and genomics-driven drug discovery. To do so, we conduct a range of risk prediction models, genome-wide association studies (GWAS), two-sample, one-sample and endotype MR strategies, and meta-analyses of randomized controlled trials.

Risk prediction

We recently illustrated the substantial impact of preventable cardiovascular risk factors for risk of dementia by generating a 10-year absolute risk score inspired by the well-known Systematic COronary Risk Estimator (SCORE) charts, implemented since the 1990'ties in cardiovascular clinical practice. We now generalize these dementia risk scores into a clinically applicable risk score system for early prevention of dementia by studying key prospective cohorts in Europe, where relevant information is available.

Mendelian randomization

We apply beyond state-of-the-art statistical methods and pipelines for MR strategies, applying two-sample techniques using summary statistics from genomic consortia on exposures and endpoints, and one-sample linear and non-linear techniques on individual level data from the UK Biobank and from other cohorts of the general population.

Meta-analyses

In order to inform health professionals and the public about the best level evidence for lifestyle interventions and emerging and established drugs, we perform comprehensive meta-analyses of randomized controlled trials and of risk factors and biomarkers in general.

Genomics-driven drug discovery

The success rate of drugs to reach clinical implementation is generally low, and for dementia in particular. Genomics-driven drug discovery is one of the promising solutions, as drug targets with human genetic support are more likely to be successful in clinical development. The genomics-driven drug discovery framework consists of three complementary methodologies. Step 1: Overlap enrichment of disease risk genes with targets of existing drugs identifies drug repurposing opportunities; Step 2: Endotype Mendelian randomization using protein quantitative trait loci (pQTL) establishes causal links between proteins and disease processes; Step 3: Screening of negative correlations between genetically regulated disease case-control gene expression and compound-regulated gene expression profiles is used to identify compounds that might correct disease-related alterations in gene expression. ​

​Researchers

  • Ruth Frikke-Schmidt, MD, PhD, DMSci, Professor, Chief Physician, group leader

  • Jesper Qvist Thomassen, MSc, PhD, Senior Scientist

  • Katrine Laura Rasmussen, MD, PhD, Associate Professor

  • Ida Juul Rasmussen, MD, PhD, Post Doc

  • Jiao Luo, MD, PhD, Post Doc, BRIDGE fellow

  • Nicolai Sandau, MD, PhD, Post Doc

  • Emilie Westerlin Kjeldsen, MD, PhD, Post Doc

  • Sofie Taageby Nielsen, MD, PhD Student

  • Rikke Mohr Lytsen, MD, PhD Student

  • Liv Rabøl Andersen, MD, coming PhD Student

  • Caroline Amalie Koch, MD Student

  • Sara Pors Grønlund, MD Student

  • Pauline Meiling Christiansen, MD Student

  • Johan August Krogh, MD Student

  • Emmanuel Minois-Genin, Bioinformatician Student

Link to publications

​Publications in pubmed

ORCID: 0000-0003-4084-5027.

Key international collaborators

  • Jean-Charles Lambert (INSERM, Lille, France)

  • Cornelia van Duijn (Nuffield Deparment of Population Health, Oxford, UK)

  • Mikko Hiltunen (University of Eastern Finland, Turku, Finland)

  • Peter Tontonoz (University of California Los Angeles, Los Angeles, USA)

Key international networks

  • European Alzheimer's & Dementia Biobank (EADB)

  • FinnGen

  • Leducq Network

Key national collaborators

  • Henning Bundgaard

  • Susanne Dam Poulsen

  • Daniel Faurholt-Jepsen

  • Peter Garred

  • Anne Tybjærg Hansen

  • Christian Hassager

  • Steen Gregers Hasselbalch

  • Linda Hilsted

  • Kasper Iversen

  • Børge Nordestgaard

  • Sisse Rye Ostrowski

  • Jesper Hastrup Svendsen

  • Thomas Clement Truelsen

Key national networks

  • Copenhagen Baby Heart Study (CBHS)

  • Copenhagen City Heart Study (CCHS)

  • Copenhagen General Population Study (CGPS)

  • Copenhagen Hospital Biobank (CHB)

  • Copenhagen Stroke Biobank (CoSBB)

  • Danish Blood Donor Study (DBDS)

  • VACCIM



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