Aneuploidy, an abnormal number of chromosomes, is broadly detrimental for cellular and organismal fuction. Yet, paradoxically, aneuploid cells are remarkably common during early human development: around 70% of human embryos contain aneuploid cells just 5 days after fertilisation. In contrast, by birth, fewer than 0.1% of babies exhibit aneuploidy. This striking discrepancy raises a fundamental question: what happens to aneuploid cells during early human development?
This project aims to address that question by combining research on human embryos donated after in vitro fertilisation with studies using stem cell-based embryo models. We will analyse both euploid and aneuploid embryos and models using a range of techniques, including genomics, advanced imaging, and molecular biology.
A central focus will be on how aneuploid cells interact with neighbouring cells during early development. We will investigate whether specific chromosomal imbalances influence cell behaviour, and how these effects differ between embryonic and extra-embryonic lineages such as the placenta. By mapping cell fate decisions and intercellular dynamics in mixed populations, we hope to clarify how embryos detect, tolerate, or eliminate abnormal cells.
More broadly, this project will provide critical insight into the developmental consequences of aneuploidy and reveal how the early human embryo is capable of navigating such a high budern of chromosomal errors.
References
A blastocyst-derived in vitro model of the human chorion
bioRxiv: (2025) preprint
Early human development and stem cell-based human embryo models.
Cell Stem Cell 31(10): 1398-1418 (2024)
Developmental potential of aneuploid human embryos cultured beyond implantation.
Nat Commun 11(1): 3987 (2020) Epub