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CLAUDIA SPITS

Our research focuses on understanding genome instability in human pluripotent cells, its mechanims of origin and its consequences. We work on two types of pluripotent cells: early human embryonic cells and human pluripotent stem cells (hPSC).

Early studies using FISH on human preimplantation embryos revealed already in the past decade that the early stages of human development are prone to aneuploidies. Over the past years, we have been involved in the development of the first methods for the study of the full chromosomal content of single cells, and have carried out comprehensive studies of the genetic content of human embryos at the cleavage-stage of development. Next to our interest in characterizing the levels of abnormality in these embryos, we are working on the better understanding of the mechanisms behind, with a focus on cell cycle abnormalities. More recently, our interest has turned to the integrity of the mitochondrial genome in these key stages of human life.

Human embryonic stem cells (hESC), derived from preimplantation embryos, and human induced pluripotent stem cells (hiPSC), obtained by the reprogramming of somatic cells, hold a great promise in the field of regenerative medicine because of their potential to develop into any cell type of the adult individual. Intensive research over the past 15 years has yielded numerous protocols for the differentiation of hPSC into nummerous cell types, and the first steps towards the clinic have been taken. Currently, one of the key issues in this regard is the genomic stability of hESC during culture. We and others have shown that hESC are prone to chromosomal abnormalities, including aneuploidies, fragile site expression and small duplications with a hotspot at 20q21.11. This genomic instability strongly reminds of the behaviour of cancer cells, and is of great concern for the use of hEPC for therapeutic purposes or as reliable research models. In our lab we study the origin, extent and consequences of this genetic instability.

mitoART

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Genome integrity in pluripotent stem cells

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Aneuploidy in early development

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PhDs

Ongoing

YINGNAN LEI. Since August 2020, works on the impact of CNVs on RPE differentiation.

NUSA KRIVEC. Since May 2019, works on Mechanisms regulating exit from pluripotency.

MARIUS REGIN. Since August 2018, works on aneuploidy in human development.

EDOUARD COUVREU DE DECKERSBERG. Since July 2018, works on genome integrity in hPSC.

JOKE MERTENS. Since August 2017, focusses on mitoART.

 

Graduated

ALEX KELLER. "Shifting the context of differentiation: Chromosomal abormalities in pluripotent stem cells. 14/07/2021. Supervisors: Prof. Spits, Prof. Geens.

CHRISTINA MARKOULI. "Losing Pluripotency. The impact of genomic alterations on differentiation." 13/11/2019. Supervisors: Prof. Spits, Prof. Geens.

FILIPPO ZAMBELLI. “Mitochondrial DNA mutations in pluripotent cells”. 29/03/2018. Supervisors: Prof. Spits, Dr. Gianaroli, Prof. Barboni. Joint PhD with the University of Teramo.

ANNA SERIOLA PETIT. “Pluripotent stem cells as research models: the examples of trinuceotide repeat instability and X-chromosome inactivation”. 21/09/2015. Supervisors: Prof. Spits, Prof. Santaló. Joint PhD with the Universitat Autonoma de Barcelona.

AFRODITI MERTZANIDOU. “Chromosomal abnormalities in human preimplantation development”. 29/04/2015. Supervisors: Prof. Spits, Prof. Sermon.

KURT JACOBS. “Genomic integrity of human embryonic stem cells: low-grade mosaicism and the effect of culture density”. 8/01/2015. Supervisors: Prof. Spits, Prof. Sermon.

HA NGUYEN THI. “Genetic instability in human embryonic stem cells: microsatellite instability and key driver genes of recurrent chromosomal abnormalities”. 6/01/2015. Supervisor: Prof. Spits.

Links to public databases

Full publication list can be viewed at Researcherid

VUB research activities are listed here

Research Gate

 

Recent publications

On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle

11/04/2022
On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle Regin, M. , Spits, C. & Sermon, K. , 11 Apr 2022 , In : Molecular Human Reproduction. 28 , 4 , 39 p. , gaac011.

Research output : Contribution to journal › Scientific...

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing

15/01/2022
Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing Franck, S., Couvreu De Deckersberg, E. , Bubenik, J. L., Markouli, C., Barbé, L., Allemeersch, J., Hilven, P. , Duqué, G., Swanson, M. S., Gheldof, A...

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

01/01/2022
Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally Mertens, J. , Regin, M. , De Munck, N. , de Deckersberg, E. C. , Belva, F. , Sermon, K. , Tournaye, H. , Blockeel, C. , Van de Velde, H. & Spits...

Measuring Early Germ-Layer Specification Bias in Human Pluripotent Stem Cells

01/01/2022
Measuring Early Germ-Layer Specification Bias in Human Pluripotent Stem Cells Keller, A., Krivec, N. , Markouli, C. & Spits, C. , 2022 , In : Methods in Molecular Biology: Experimental Cholestasis Research . 2429 , p. 57-72 16 p.

Research output : Contribution to journal ›...

Mitochondrial DNA mosaicism in early human development

26/11/2021
Mitochondrial DNA mosaicism in early human development Mertens, J. , Regin, M. , De Munck, N. , Couvreu De Deckersberg, E. , Blockeel, C., Tournaye, H. , Van De Velde, H. , Sermon, K. & Spits, C. , 26 Nov 2021 .

Research output : Unpublished contribution to conference › Poster...

Our research is supported by

Logo fonds wetenschappelijk onderzoekFonds voor Wetenschappelijk onderzoek Vlaanderen
Logo IWTAgentschap voor innovatie door wetenschap en techniek
Logo Vrije Universiteit BrusselMethusalem grant of the Research Council of the Vrije Universiteit Brussel
Logo UZ BrusselScientific Research Fond Willy Gepts of Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel