This study shows that increased BCL2L1 and ID1 gene dosage in human pluripotent stem cells drives competitive advantage and fate bias toward non-neural ectodermal and extraembryonic fates during differentiation.

bioRxiv · Mar 29, 2026 · PreprintDevelopmental Biology

Loss of 18q alters TGFβ signalling affecting anteroposterior neuroectodermal fate in human embryonic stem cells

Yingnan Lei, Mai Chi Duong, Nuša Krivec, Charlotte Janssens, Marius Regin, Anfien Huyghebaert, Edouard Couvreu de Deckersberg, Karen Sermon, Diana Al Delbany, Claudia Spits

This study shows that loss of chromosome 18q in hESCs impairs differentiation into retinal progenitor cells by disrupting TGFβ signaling and anteroposterior neuroectodermal fate commitment.

Cell Proliferation · Feb 5, 2025Peer-reviewedCell Biology

Complex aneuploidy triggers autophagy and p53-mediated apoptosis and impairs the second lineage segregation in human preimplantation embryos

Marius Regin, Yingnan Lei, Edouard Couvreu de Deckersberg, Charlotte Janssens, Anfien Huyghebaert, Yves Guns, Pieter Verdyck, Greta Verheyen, H. Van de Velde, Karen Sermon, Claudia Spits

The paper investigates the cellular consequences of aneuploidy in human blastocysts, finding p53-mediated apoptosis and impaired lineage segregation.

eLife · Dec 9, 2024Peer-reviewedDevelopmental Biology

De novo cancer mutations frequently associate with recurrent chromosomal abnormalities during long-term human pluripotent stem cell culture

Diana Al Delbany, Manjusha S. Ghosh, Nuša Krivec, Anfien Huyghebaert, Marius Regin, Mai Chi Duong, Yingnan Lei, Karen Sermon, Catharina Olsen, Claudia Spits

This study tracks genetic changes in human pluripotent stem cells over time, finding that recurrent chromosomal gains drive the accumulation of other mutations.

Cells · Aug 21, 2024Peer-reviewedCell Biology

Differences in maternally inherited and age-related de novo mitochondrial DNA variants between ART and spontaneously conceived individuals associate with low birth weight

Joke Mertens, Florence Belva, Aafke P.A. van Montfoort, Filippo Zambelli, Sara Seneca, Edouard Couvreu de Deckersberg, M Bonduelle, Herman J. Tournaye, Katrien Stouffs, Kurt Barbé, Hubert J.M. Smeets, H. Van de Velde, Karen Sermon, Christophe Blockeel, Claudia Spits

The paper identifies mtDNA variants in ART and spontaneously conceived individuals linked to lower birth weight, showing sex-dependent effects and maternal aging influences.

medRxiv · Sep 5, 2022 · PreprintGenetic & Genomic Medicine

Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally

Joke Mertens, Marius Regin, Neelke De Munck, Edouard Couvreu de Deckersberg, Florence Belva, Karen Sermon, Herman J. Tournaye, Christophe Blockeel, H. Van de Velde, Claudia Spits

The paper shows that mtDNA mosaicism arises early in human preimplantation development and persists into adulthood through asymmetric mitochondrial distribution.

Human Molecular Genetics · Mar 8, 2022Peer-reviewedGenetics

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells

Silvie Franck, Lise Barbé, Simon Ardui, Yannick De Vlaeminck, Joke Allemeersch, Dominika Dziedzicka, Claudia Spits, Fien Vanroye, Pierre Hilven, Geoffrey Duqué, Joris Robert Vermeesch, Alexander Gheldof, Karen Sermon

This study shows that MSH2 knock-down stabilizes CTG repeats and reduces upstream CpG methylation in DM1 hESCs, suggesting a link between DNA repair and epigenetic changes in DM1.

Human Molecular Genetics · Nov 1, 2020Peer-reviewedGenetics