Prof. Karoline Kuchenbaecker





Research Focus

The aim of my research is to illuminate the genetic and environmental risk factors for complex diseases by leveraging the unique characteristics of different populations. Increased diversity in research is crucial to reduce national and global health inequalities.



I am pleased to consider applications from prospective PhD students.

I am lecturing for the following courses: Clinical Mental Health Sciences, Genetics of Human Diseases, Drug Design, Biological Sciences. We supervise Master dissertation projects. Past topics include the genetic architecture of lipids across populations, whole-genome sequencing for breast cancer cases, the genetic architecture of mental health indicators, associations of regulatory genetic elements with risk of breast cancer, the genetics of ageing.

Other roles

Media coverage

Key publications

  • Fatumo, S., Chikowore, T., Choudhury, A., Ayub, M., Martin, A. R., & Kuchenbaecker, K. (2022). A roadmap to increase diversity in genomic studies. Nature Medicine, 28(2), 243–250.
  • Javidnia, S., Cranwell, S., Mueller, S. H., Selman, C., Tullet, J. M. A., & Kuchenbaecker, K. (2022). Mendelian randomization analyses implicate biogenesis of translation machinery in human aging. Genome Research, 32(2), 258–265.
  • Giannakopoulou, O., Lin, K., Meng, X., Su, M.-H., Kuo, P.-H. ..., & Kuchenbaecker, K. (2021). The Genetic Architecture of Depression in Individuals of East Asian Ancestry. JAMA Psychiatry, 11(78), 258–265.
  • Borde, J., Ernst, C., Wappenschmidt, B., … Kuchenbaecker, K. (2020). Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. JNCI: Journal of the National Cancer Institute, 113(7), 893–899.
  • Kuchenbaecker, K., Telkar, N., Reiker, T., … Zeggini, E. (2019). The transferability of lipid loci across African, Asian and European cohorts. Nature Communications, 10(1), 4330.
  • Peterson, R. E., Kuchenbaecker, K., Walters, R. K., … Duncan, L. E. (2019). Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. Cell, 179(3), 589–603.
  • Kuchenbaecker, K., & Appel, E. V. R. (2018). Assessing Rare Variation in Complex Traits. In Methods in Molecular Biology, Vol. 1793, Springerpp. 51–71.
  • Gilly, A., Suveges, D., Kuchenbaecker, K., … Zeggini, E. (2018). Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits. Nature Communications, 9(1).
  • Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., … Simard, J. (2017). Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics, 49(12), 1767–1778.
  • Lee, Y. C., Milne, R. L., Lheureux, S., … Phillips, K. A. (2017). Risk of uterine cancer for BRCA1 and BRCA2 mutation carriers. European Journal of Cancer, 84(23), 114–120.
  • Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., … Others. (2017). Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. JNCI: Journal of the National Cancer Institute, 109(7).
  • Phelan, C. M., Kuchenbaecker, K. B., Tyrer, J. P., … Pharoah, P. D. P. (2017). Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nature Genetics, 49(5), 680–691.
  • Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., … Chenevix-Trench, G. (2015). Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nature Genetics, 47(2), 164–171.
  • Swerdlow, D. I., Preiss, D., Kuchenbaecker, K. B., … Sattar, N. (2015). HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials. The Lancet, 385(9965), 351–361.