Claudia Spits Team

Genome integrity in human pluripotent cells

Claudia Spits was born in Spain to a Dutch family that settled in a small beach town back in the sixties. She completed a Masters degree in Biology at the Universitat Autonoma de Barcelona, and after obtaining a highly competitive grant, engaged in a PhD at the same university. During her spare time, she started a bachelor degree in computer science, which despite not having been completed provides her now with a good insight on algorithm design and programming. The slow progress of her PhD enticed her to wrap it up into a master thesis, and move to Brussels, to start a new PhD at the VUB, which she defended in 2006. She decided to stay in Brussels for a post-doc, instead of returning to Spain. The human embryonic stem cell laboratory was just kicking off at the VUB and she decided to join the group after obtaining a post-doctoral fellowship of the FWO-Vlaanderen.

Currently, she holds a faculty position and supervises a growing and very international team of researchers focussing on genome integrity and its consequences in human pluripotent cells. A recurrent theme in her work is the use of new technologies in applications they were not originally intended for, often pushing them to their physical and technical limits, and on rather unique samples. Her work has been published in numerous peer-reviewed journals, including Nature Biotechnology and Nature Communications.

Contact: claudia.spits@vub.ac.be

Curriculum Vitae

Education

2002-2006: PHD IN MEDICAL SCIENCES. Thesis: (R)evolution in preimplantation genetic diagnosis. Development and clinical application of different approaches to preimplantation genetic diagnosis for monogenic disorders. Supervisor: Prof. Dr. I. Liebaers, Vrije Universiteit Brussel (VUB, Belgium).

2000-2002. ADVANCED MASTERS DEGREE IN GENETICS AND CELL BIOLOGY. Thesis: Preimplantation genetic diagnosis for cystic fibrosis. Supervisor: Prof. J. Santalo, Universitat Autonoma de Barcelona (Spain).

1995-2000. MASTERS DEGREE IN BIOLOGY. Specialization in cell biology and genetics, Universitat Autonoma de Barcelona (Spain). Thesis: Clinical implementation of automated human sperm analysis. Supervisor: Prof. J. Santalo, Universitat Autonoma de Barcelona (Spain).

Academic career

1/10/2014 - 30/09/2015. HEAD OF THE RESEARCH GROUP REPRODUCTION AND GENETICS, VUB. Interim position during the sabbatical leave of the head of department, Prof. Sermon.

Since 1/10/2011. RESEARCH PROFESSOR (10%), Research Group Reproduction and Genetics, VUB.

Since 1/10/2007. POSTDOCTORAL RESEARCHER, Research Group Reproduction and Genetics, VUB.

Fellowships and awards

2012: IGNACE VANDERSCHEUREN AWARD. Awarded by the VUB to the best PhD dissertation in Biomedical Sciences for the period 2006-2012.

December 2008 - February 2009: HONORARY VISITING RESEARCH FELLOW. Institute for Biochemistry, Molecular Biology and Biotechnology, Colombo (Sri Lanka).

1 October 2007 - 31 September 2014: POSTDOCTORAL FELLOWSHIP. Funded by the Fonds voor Wetenschappelijk Onderzoek Vlaanderen.

1 September 2000 - 30 June 2002: RESEARCH FELLOWSHIP. Funded by the Universitat Autonoma de Barcelona.

Teaching activities at the VUB

2014-2015. EMBRYONIC STEM CELLS. Masters year of Biomedical Sciences and Biology.

2014-2015. BIOMEDICAL GENETICS, practicals. Third year bachelor Biomedical Sciences.

Since 2013. DEVELOPMENTAL BIOLOGY AND EMBRYOLOGY. 6h in the course of Prof. Dr. H. Tournaye. Topic: Stem cells. Second year bachelor Biomedical Sciences.

Since 2012. THE EMPYRICAL CYCLE IN PRACTICE. 2h in the course of Prof. Dr. C. Van Schravendijk. Topic: Genome instability in human embryonic stem cells. First year bachelor Biomedical Sciences.

Since 2011. CONCEPTION AND DEFENSE OF A SCIENTIFIC HYPOTHESIS. Third bachelor year of Biomedical Sciences and Medicine.

Since 2008. SHORT INTERNSHIP, FIRST MASTERS YEAR OF BIOMEDICAL SCIENCES.

Since 2008. MASTER THESIS BIOMEDICAL SCIENCES AND INTERUNIVERSITARY PROGRAMME FOR MOLECULAR BIOLOGY.

PhD students

Kurt Jacobs. Genomic integrity of human embryonic stem cells: low-grade mosaicism and the effect of culture density. Public defence: 8 January 2015.

Ha Nguyen Thi. Genetic instability in human embryonic stem cells: microsatellite instability and key driver genes of recurrent chromosomal abnormalities. Public defence: 6 January 2015.

Afroditi Mertzanidou. Chromosomal abnormalities in human preimplantation development. Projected public defence: April 2015.

Anna Seriola Petit. Since September 2009. Joint PhD with the Universitat Autonoma de Barcelona.

Christina Markouli. Since September 2013.

Filippo Zambelli. Since September 2014. Joint PhD with the University of Bologna.

Institutional responsabilities at the VUB

Since 1/11/2014. Member of the board supervising PhD theses submission to the Faculty of Medicine and Pharmacy of the VUB.

Participation in scientific societies and journals

DEPUTY OF THE SPECIAL INTEREST GROUP REPRODUCTIVE GENETICS OF THE EUROPEAN SOCIETY FOR HUMAN REPRODUCTION AND EMBRYOLOGY (ESHRE). Junior Deputy 2008-2011. Deputy 2011-2015. Coordinator as from June 2015. Main responsibilities: abstract selection and co-organization of workshops, symposia and sessions for the annual meeting of the society. 2013 meeting had >10.000 attendants, the society has >6.000 members.

CO-FOUNDER OF THE BELGIAN SOCIETY FOR STEM CELL RESEARCH (BeSSCR). First meeting was on 12/09/2014 and had 200 attendants.

ASSOCIATE EDITOR FOR HUMAN REPRODUCTION since 2012.

Peer-reviewed publications

The full publication list can be viewed at www.researcherid.com/rid/J-1964-2014

TOP 10 PUBLICATIONS

Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations. Jacobs K, Mertzanidou A, Geens M, Nguyen HT, Staessen C, Spits C. Nature Communications. 2014, 5:4227. 5- year impact factor: 10.020.

Gain of 20q11.21 in human embryonic stem cells improves cell-survival by increased expression of Bcl-xL. Nguyen HT, Geens M, Mertzanidou A, Jacobs K, Heirman C, Breckpot K, Spits C. Molecular Human Reproduction. 2014, 20:168-77. 5-year impact factor: 4.009.

Genetic and epigenetic instability in human pluripotent stem cells. Nguyen H.T., Geens M, Spits C. Human Reproduction Update. 2013, 19:187-205. 5-year Impact factor: 9.512.

Evolution of aneuploidy up to day 4 of human preimplantation development. Mertzanidou A*, Spits C*, Nguyen H.T., Van de Velde H, Sermon K. Human Reproduction. 2013, 28:1716-24. * Joint first authorship. 5-year Impact factor: 4.596.

Human embryonic stem cells commonly display large mitochondrial DNA deletions. Van Haute L.*, Spits C.*, Geens M., Seneca S., Sermon K. Nature Biotechnology. 2013, 31:20-3. * Joint first authorship. 5-year impact factor: 32.182.

Huntington and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Seriola A*, Spits C*, Simard J.P., Hilven P., Haentjens P., Pearson C.E., Sermon K. Human Molecular Genetics. 2011, 20:176-85. * Joint first authorship. Impact factor 2011: 7.636.

Recurrent chromosomal abnormalities in human embryonic stem cells. Spits C, Mateizel I, Geens M, Mertzanidou A, Staessen C, Vandeskelde Y, Van der Elst J, Liebaers I, Sermon K. Nature Biotechnology. 2008, 26:1361-3. Impact factor 2008: 22.297.

Single-cell aneuploidy detection by array CGH. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch RJ. Nucleic Acids Research. 2006, 34:e68. Impact factor 2006: 6.317.

Whole genome multiple displacement amplification from single-cells. Spits C*, Le Caignec C*, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K. Nature Protocols. 2006, 1:1965-70. * Joint first authorship. No impact factor in 2006 (journal started in 2006, current impact factor: 9.924).

Development and evaluation of single-cell whole genome multiple displacement amplification. Spits C*, Le Caignec C*, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K. Human Mutation. 2006, 27:496-503. * Joint first authorship. Impact factor 2006: 6.473.

Participation in scientific meetings

INTERNATIONAL MEETINGS

Invited speaker

Pre-congress course of the 31st Annual Meeting of the ESHRE: 'Genetic and genomic mechanisms and markers associated with gamete and embryo quality'. Lisbon, Portugal (14/06/2015). 'Mechanisms of transmission of aneuploidies in human embryos'

ESHRE campus event, course: 'Stem cells: origins, genetics, properties and sigificance for fertility preservation'. Brussels, Belgium (27-28/04/2014). 'Genetic instability of human pluripotent stem cells – caution for clinical use' Lecture also available through the e-learning platform of ESHRE.

26th Annual meeting of ESHRE. 27/06/2010-30/06/2010, Rome (Italy). 'Genomic stability of human pluripotent cells'.

Master Class/Minisymposium on Stem cells in cancer biology and treatment. 03/07/2009. UZM, Maastricht. 'Genomic instability in human embryonic stem cells'.

International Course on Reproductive Medicine, 17/04/2009, Santiago (Chili). 'How to select the best embryo?', 'Preimplantation genetic diagnosis' en 'Stem cells: hope or hype?'.

8th International Symposium on Preimplantation Genetic Diagnosis. 23/04/2008-26/04/2008, Barcelona (Spanje). 'Preimplantation Genetic Diagnosis for late-onset diseases'.

Second Symposium on Male and Female Infertility. 7/07/2006, Sabadell (Spain). 'New molecular technologies applied to preimplantation genetic diagnosis'.

Last author

12th Annual Meeting of ISSCR. 18/06/2014-21/06/2014, Vancouver (Canada). Poster presentation 'Human embryonic stem cells show low-grade microsatellite instability' Nguyen HT, Markouli C, Geens M, Sermon K, Spits C.

12th Annual Meeting of ISSCR. 18/06/2014-21/06/2014, Vancouver (Canada). Poster presentation 'Differentiation capacity of chromosomally abnormal human embryonic stem cells' Markouli C, Geens M, Nguyen HT, Dziedzicka D, Sermon K, Spits C.

11th Annual meeting of the ISSCR, 12/06/2013-15/06/2013, Boston (USA). Poster presentation 'Gain of 20q11.21 in human embryonic stem cells improves cell-survival by increased expression of Bcl-xL'. Nguyen HT, Geens M, Mertzanidou A, Jacobs K, Sermon K, Spits C.

11th Annual meeting of the ISSCR, 12/06/2013-15/06/2013, Boston (USA). Poster presentation 'Low-grade mosaicism in human embryonic stem cell cultures'. Jacobs K, Mertzanidou A, Geens M, Staessen C, Sermon K, Spits C.

Voorjaarsvergadering VFS Vereniging voor Fertiliteitsstudie 25/05/2012, Brussels (Belgium). Oral presentation 'Starvation and overcrowding: culture conditions and DNA damage in embryonic stem cells'. Jacobs K, Nguyen H, Geens M, Smolders IJ, Sermon K, Spits C.

Voorjaarsvergadering VFS Vereniging voor Fertiliteitsstudie 25/05/2012, Brussels (Belgium). Oral presentation 'Unraveling the selective advantage of the 20q11.21 amplification in human embryonic stem cells' Nguyen H, Geens M, Mertzanidou A, Jacobs K, Sermon K, Spits C.

First author

10th Annual meeting of the ISSCR, 13/06/2012-16/06/2012, Yokohama (Japan). Poster presentation 'Multiple large deletions in the mitochondrial DNA of human embryonic stem cells'. Spits C., Van Haute L., Geens M., Seneca S., Sermon K.

24th Annual meeting of the ESHRE. 6/07/2008-9/07/2008, Barcelona (Spain). Oral presentation 'Molecular karyotyping and genetic stability of human embryonic stem cell lines'. Spits C, Mateizel I, Geens M, Mertzanidou A, Van der Elst J, Liebaers I, Sermon K.

6th Annual Meeting of the ISSCR. 11/06/2008-14/06/2008, Philadelphia (USA). Poster presentation 'Molecular karyotyping and genetic stability of human embryonic stem cell lines'. Spits C, Mateizel I, Geens M, Mertzanidou A, Van der Elst J, Liebaers I, Sermon K.

International Symposium on New Developments in Reproductive Medicine. 27-28/10/2005, Valencia (Spain). Poster presentation 'Development and evaluation of single-cell whole genome multiple displacement amplification'. Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K.

7th International Research Symposium on the Marfan Syndrome. 14-17/09/2005, Gent (Belgium). Poster presentation 'Preimplantation genetic diagnosis for Marfan Syndrome'. Spits C, De Rycke M, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, Sermon K.

Workshop 'PGD in 2003: a Genetic Odyssey', ESHRE. 5-6/12/2003, Brussels (Belgium). Poster presentation 'Strategies for Preimplantation Genetic Diagnosis for Neurofibromatosis type 1.' Spits C, De Rycke M, Sermon K, Van Ranst N, Joris H, Platteau P, Van Steirteghem A, Liebaers I.

5th International Symposium on preimplantation genetics. 5-7/06/2003, Antalya (Turkey). Poster presentation 'Multiplex-PCR for polymorphic markers linked to the FBN1-gene: application in PGD for Marfan Syndrome.' Spits C, De Rycke M, Sermon K, Joris H, Platteau P, Van Steirteghem A, Liebaers I.

Co-author

13th Annual Meeting of ISSCR. 24/06/2015-27/06/2015, Stockholm (Sweden). Poster presentation 'Is skewed x chromosome inactivation in human embryonic stem cells driven by a culture advantage?' Seriola A, Spits C, Barbe L, Santalo J, Veiga A, Sermon K, Geens M.

13th Annual Meeting of ISSCR. 24/06/2015-27/06/2015, Stockholm (Sweden). Poster presentation 'Optimization of embryoid body formation from single cell suspensions of human embryonic stem cells cultured on laminin-521' Dziedzicka D, Markouli C, Spits C, Sermon K, Geens M.

13th Annual Meeting of ISSCR. 24/06/2015-27/06/2015, Stockholm (Sweden). Poster presentation 'MSH2 knock down triggers trinucleotide instability in myotonic dystrophy type I human embryonic stem cells' Barbe L, Nguyen HT, Hilven P, Spits C, Sermon K.

12th Annual Meeting of ISSCR. 18/06/2014-21/06/2014, Vancouver (Canada). Poster presentation 'Stable non-random X chromosome inactivation in human embryonic stem cells: culture artefact rather than a parent-of-origin specific event' Geens M, Barbe L, Spits C, Dée K, Van Haute L, Sermon K.

Annual Meeting of the ESHRE, 29/06/2014-2/07/2014, Munich (Germany). Oral presentation 'Stable non-random X chromosome inactivation in human embryonic stem cells: culture artefact rather than a parent-of-origin specific event' Geens M, Barbe L, Spits C, Dée K, Van Haute L, Sermon K.

3rd World Congress on Targeting Mitochondria. 8-9/11/2012, Berlin (Germany). Oral presentation 'Multiple large deletions in the mtDNA of human embryonic stem cells' Abstract Book, page: 48. Van Haute L, Spits C, Geens M, Seneca S, Sermon K.

Voorjaarsvergadering VFS Vereniging voor Fertiliteitsstudie 25/05/2012. Oral presentation 'Comprehensive analysis of chromosomes in day-4 human preimplantation embryos reveals the evolution of chromosomal abnormalities but not self-correction' Mertzanidou A, Spits C, Van de Velde H, Sermon K.

Voorjaarsvergadering VFS Vereniging voor Fertiliteitsstudie 25/05/2012. Oral presentation 'Does a non-random X chromosome inactivation pattern result in a growth advantage in female hESC?' Geens M, Barbe L, Spits C, Dée K, Sermon K.

28th Annual meeting of EHSRE. 1/07/2012-4/07/2012, Istanbul (Turkey). Oral presentation 'Developmental history of human embryos: how chromosomal chaos arises'. Mertzanidou A, Spits C, Van De Velde H, Sermon K.

10th Annual meeting of the ISSCR, 13/06/2012-16/06/2012, Yokohama (Japan). Poster presentation 'X chromosome inactivation in human embryonic stem cells: all or nothing!' Geens M, Barbe L, Spits C, Dée K, Sermon K.

10th Annual meeting of the ISSCR, 13/06/2012-16/06/2012, Yokohama (Japan). Poster presentation 'Overcrowding and starvation: culture density and DNA damage in human embryonic stem cells' Jacobs K, Spits C, Geens M, Smolders I, Sermon K.

8th Annual meeting of the ISSCR. 16-19/06/2010, San Francisco (US). Poster presentation 'Sequencing of mitochondrial DNA of human embryonic stem cells'. Abstract page: Q1. Van Haute L, Spits C, Geens M, Seneca S, Sermon K.

7th Annual meeting of the ISSCR, 8/07/2009-11/07/2009, Barcelona (Spanje). Poster presentation 'Characterization of CD30 expression in hESC lines cultured in serum free media and mechanically passaged'. Mateizel I, Spits C, Verloes A, Mertzanidou A, Lieabers I, Sermon K.

25th Annual meeting of ESHRE. 28/06/2009-1/07/2009, Amsterdam (Nederlands). Poster presentation 'Molecular karyotyping by array-CGH on single blastomeres: a pilot study'. Mertzanidou A, Wilton L, Spits C, Vanneste E, Staessen C, McBain J, Liebaers I, Vermeesch J, Sermon K.

24th Annual meeting of ESHRE. 6/07/2008-9/07/2008, Barcelona (Spain). Poster presentation 'Broadening the spectrum of human embryonic stem cell lines from PGD embryos with genetic disorder: lines with Marfan, FSHD and Fragile X syndrome'. Mateizel I, Geens M, Van Haute L, Spits C, Chen B, Van der Elst J, Liebaers I, Sermon K.

24th Annual meeting of ESHRE. 6/07/2008-9/07/2008, Barcelona (Spain). Oral presentation 'Trinucleotide repeat instability in human embryonic stem cells: the role of the mismatch repair machinery'. Seriola A, Spits C, Mateizel I, De Temmerman N, Hilven P, Van der Elst J, Liebaers I, Sermon K.

24th Annual meeting of ESHRE. 6/07/2008-9/07/2008, Barcelona (Spain). Oral presentation 'A human embryonic stem cell line derived from a single blastomere of a 4-cell stage embryo' Van de Velde H, Geens M, Mateizel I, Spits C, Sermon K, De Rycke M, Van der Elst J, Devroey P, Tournaye H, Liebaers I.

40th European Human Genetics conference. 31/05/2008-03/06/2008, Barcelona (Spanje). Oral presentation 'Multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD)' De Rycke M, Spits C, Verpoest W, Sermon K, Van der Elst J, Liebaers I.

NATIONAL MEETINGS

Invited speaker

1st Meeting of the Belgian Society for Stem Cell Research. 12/09/2014, Gent (Belgium). (Epi-)genomic stability of pluripotent stem cells. Spits C.

Last author

12th Annual Meeting Belgian Society of Human Genetics. 02/03/2012, Luik (Belgium). Poster presentation 'Unraveling the selective advantage of the 20q11.21 amplification in human embryonic stem cells' Nguyen H, Geens M, Mertzanidou A, Jacobs K, Sermon K, Spits C.

1st Meeting of the Belgian Society for Stem Cell Research. 12/09/2014, Gent (Belgium). Poster presentation 'Differentiation capacity of chromosomally abnormal human embryonic stem cells' Markouli C, Geens M, Nguyen HT, Dziedzicka D, Sermon K, Spits C.

First author

Belgian Society of Reproductive Medicine. 13/10/2006, Essene (Belgium). Oral presentation 'Multiple displacement amplification in preimplantation genetic diagnosis'. Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, Sermon K.

3rd annual meeting of the Belgian Society for Human Genetics. 19/03/2004, Gent (Belgium). Oral presentation 'Preimplantation genetic diagnosis for Marfan Syndrome'. Spits C, De Rycke M, Sermon K, Joris H, Platteau P, Van Steirteghem A, Liebaers I.

Belgian Society of Reproductive Medicine. 08/10/2003, Brussels (Belgium). Oral presentation 'Strategies for Preimplantation Genetic Diagnosis for Neurofibromatosis type 1.' Spits C, De Rycke M, Sermon K, Van Ranst N, Joris H, Platteau P, Van Steirteghem A, Liebaers I.

Co-author

1st Meeting of the Belgian Society for Stem Cell Research. 12/09/2014, Gent (Belgium). Poster presentation: 'Optimization of embryoid body formation from single cell suspensions of human embryonic stem cells cultured on laminin-521'. Dziedzicka D, Markouli C, Spits C, Sermon K, Geens M.

12th Annual Meeting Belgian Society of Human Genetics. 02/03/2012, Luik (Belgium). Oral presentation 'Multiple large deletions in the mitochondrial DNA of human embryonic stem cells'. Van Haute L, Spits C, Geens M, Seneca S, Sermon K.

12th Annual Meeting Belgian Society of Human Genetics. 02/03/2012, Luik (Belgium). Poster presentation 'Starvation and overcrowding: culture conditions and DNA damage in embryonic stem cells' Jacobs K, Spits C, Geens M, Sermon K.

Belgian Society of Reproductive Medicine. 03/10/2008, Brussels (Belgium). Oral presentation 'Molecular karyotyping by array-CGH on single blastomeres: a pilot study'. Mertzanidou A, Wilton L, Spits C, Vanneste E, Staessen C, McBain J, Liebaers I, Vermeesch J, Sermon K.

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