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.
- One of the key initiatives I lead is a genetic discovery effort for major depressive disorder across different populations, as part of the Psychiatric Genomics Consortium (PGC).
- My group also works on optimal analytic approaches for ancestrally diverse samples and develops methods to assess the associations of functional genomic elements and tools that can identify and dissect heterogeneity in associations across diverse groups.
- Seeking novel breast cancer genes in women from Pakistan and Colombia using whole-genome sequencing
- In the past, I was involved in several breakthrough discovery studies for breast and ovarian cancer loci. Today we investigate high impact mutations in families from Pakistan and Columbia. We also assess the potential of genetic variants for cancer risk prediction for woman with family history of the disease.
- Influences of copy number variants (CNVs) and polygenic risk scores (PRSs) in psychotic disorders: A prospective study and meta-analysis
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.
- Genomics England: Scientific Lead for Diverse Data, Genomics England
- Co-editor-in-chief for Global Health, Epidemiology and Genomics
- Associate editor for Annals of Human Genetics
- Member of PGC MDD Workgroup
- Member of PGC Cross-ancestry Special Interest Group
- Telegraph - diversity: “Why the world’s genomic revolution is incomplete”
- iNews - ageing: “Gene discovery raises hopes of finding the secret of long life and creating drugs to make people live longer”
- Drug target review - ageing: “Genes newly linked to ageing and human lifespan”
- European Scientist - ageing: “Researchers discover genes involved in human lifespan”
- Economic Times India - ageing: “Genes vs healthy eating: Can lifestyle changes give you extra years to live?”
- Medscape - diversity: “Psychiatric Genomics Has a Diversity Problem”
- The Naked Scientist - diversity: “African genetics and ethics”
- The Conversation - diversity: “Most genetic studies use only white participants – this will lead to greater health inequality”
- Washington Post - cancer: “I have the scary cancer mutation. When should I have my breasts removed?”
- CNN - cancer: “New gene changes linked to greater risk of brain and ovarian cancer”
- 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.