Projects per year
Personal profile
Expertise
Malformations of cortical development
The development of the cerebral cortex is extremely complex but can nevertheless be divided into different, partly overlapping stages. Interference with one or more of these processes by genetic or external factors may result in malformations of cortical development (MCD). The most prevalent MCDs include lissencephaly/subcortical band heterotopia, polymicrogyria, periventricular heterotopia and focal cortical dysplasia. MCDs are an important cause of mental and motor impairment, severe epilepsy, intellectual disability, and autism. Patients require a lifelong multidisciplinary follow-up and treatment is restricted to symptom relief. Most MCD have a genetic etiology but there is extensive heterogeneity both with respect to genotypes and phenotypes. For the large majority of patients with MCDs, the exact etiology of their disorder is still unknown, leaving a considerable number of families not having access to counseling or prenatal diagnosis in order to prevent recurrence.
The different projects aim at the further identification of genes involved in the regulation of neuronal migration and the study of the functional consequences of mutations in these genes , starting from a patient-driven approach. This will result in mapping of major pathways involved in cortical development and function.
The general aims of the studies are:
- To search for new genes involved in malformations of cortical development
- To expand the genotype/phenotype knowledge of known genes/diseases involved in malformations of cortical development
- To develop in vitro tools to study functional consequences of genetic alterations
- To study changes in iPSC derived cortical neurons comparing patients and controls
Genetics of male infertility
Infertility is a problem affecting 10-15% of couples with a child wish. For about half of these couples, a male factor is (co-)responsible . Although for a lot of patients the origin of the problems can be detected, still approximately 30% remains undiagnosed. Two main categories of disorders can be distinguished: acquired and congenital. The last category can either be of genetic origin or can be due to a developmental disorder.
Our team is especially interested in men with a (presumed) genetic cause of male infertility and families with multiple affected cases. For infertile men for whom sperm cells can be retrieved either from the ejaculate or by testicular sperm extraction, in vitro fertilization, possibly with intracytoplasmic sperm injection (ICSI) might be a solution for their fertility problems. As a consequence, also potential genetic causes of infertility can be transmitted. Therefore, it is important to identify and study these genetic causes in order to be able to adequately counsel the couples.
The general aims of the studies are:
- To detect changes in the genome that are related to male infertility.
- To get more insight into the underlying mechanism and consequences of (known) causes of male infertility with a special focus on Y-chromosomal genes.
- To study genes expressed in testicular tissues, and therefore potentially involved in spermatogenesis.
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Network
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ANI299: Combining exome and transcriptome data to unravel the genetic basis of the lissencephalis
Jansen, A., Stouffs, K., Olsen, C. & Rijckmans, E.
1/10/21 → 1/10/23
Project: Fundamental
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ANI253: Functional research of genes involved in the development of the brain
Jansen, A., Stouffs, K., Sermon, K., Gheldof, A. & Yildirim, H.
1/10/20 → 30/09/22
Project: Fundamental
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OZRMETH3: Research at the interface between human genetics and reproduction.
Sermon, K., Seneca, S., Bonduelle, M., De Rycke, M., Devroey, P., Goossens, E., Lissens, W., Spits, C., Stouffs, K., Tournaye, H., Dee, K., Vandermaelen, D., Van Haute, L., Van Saen, D., Van Den Abbeel, E., Liebaers, I., De Meirleir, L., Nekkebroeck, J. & Van De Velde, H.
1/01/09 → 31/12/22
Project: Fundamental
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FWOAL473: Analysis of genes involved in male infertility
Liebaers, I., Lissens, W., Tournaye, H., Lissens, W. & Stouffs, K.
1/01/08 → 31/12/11
Project: Fundamental
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Research output
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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., Sanz, J. & 5 others, , 9 Feb 2022, In : Brain.Research output: Contribution to journal › Article
Open Access -
Dysfunctional CTDP1 impairs the cell cycle indicating its essential role in neurodevelopment
Yildirim, H., Dimitrov, B., Cannaerts, E., Sermon, K., Gheldof, A., Stouffs, K. & Jansen, A., 2022.Research output: Unpublished contribution to conference › Poster
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Huit nouveaux cas de patientes présentant un variant pathogène de novo dans le gène ARX et revue de la littérature du phénotype des femmes hétérozygotes.
Keymolen, K. & Stouffs, K., 3 Feb 2022, p. 14. 1 p.Research output: Unpublished contribution to conference › Poster
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Maia, N. M. M., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'kane, K., Lai, A., Sermon, K., Proisy, M., Loget, P., Attié-Bitach, T., Quélin, C., Fortuna, A. M., Soares, A. R., de Brouwer, A. P. M., Van Schaftingen, E., Marie-Cécile, N. & 5 others, , 3 Feb 2022, In : American Journal of Human Genetics. 109, 2, p. 345-360 16 p.Research output: Contribution to journal › Article
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Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders
Chen, X., Wilson, K. A., Schaefer, N., De Hayr, L., Windsor, M., Scalais, E., van Rijckevorsel, G., Stouffs, K., Villmann, C., O'Mara, M. L., Lynch, J. W. & Harvey, R. J., 29 Apr 2022, In : Frontiers in molecular neuroscience. 15, 15 p., 886729.Research output: Contribution to journal › Article
Prizes
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Award Dr Karel Lodewijk Verleysen (2003-2008)
Katrien Stouffs (Recipient), 1 Oct 2009
Prize: Prize (including medals and awards)
Activities
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Maternally inherited differences in mitochondrial DNA genotype between ART and spontaneously conceived individuals associate with low birthweight
Joke Mertens (Speaker), Florence Belva (Contributor), Aafke PA van Montfoort (Contributor), Filippo Zambelli (Contributor), Sara Seneca (Contributor), Edouard Couvreu De Deckersberg (Contributor), Mary-Louise Bonduelle (Contributor), Herman Tournaye (Contributor), Katrien Stouffs (Contributor), Kurt Barbé (Contributor), Hubert J M Smeets (Contributor), Hilde Van De Velde (Contributor), Karen Sermon (Contributor), Christophe Blockeel (Contributor), Claudia Spits (Contributor)30 Jun 2021Activity: Talk or presentation › Talk or presentation at a conference
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21st Annual Meeting of the Belgium Society for Human Genetics
Maria Filomena Cuevas Y Bretones (Organiser), Karen Sermon (Member of programme committee), Thomy de Ravel (Member of programme committee), Willem Verpoest (Member of programme committee), Catharina Olsen (Member of programme committee), Hilde Van De Velde (Member of programme committee), Freya Vaeyens (Member of programme committee), Kathelijn Keymolen (Organiser), Ken Maes (Organiser), Pieter Verdyck (Organiser), Veerle Berckmoes (Organiser), Kim Van Berkel (Organiser), Frederik Jan Hes (Chair), Florence Belva (Participant), Marleen Carlé (Participant), Aranza Cortes Jauregui (Participant), Pascale De Becker (Participant), Jacques De Grève (Participant), Martine De Rycke (Chair), Elke De Schutter (Participant), Simon Denil (Participant), Boyan Dimitrov (Participant), Elia Fernandez Gallardo (Participant), Annelies Fieuw (Participant), Alexander Gheldof (Participant), Philippe Giron (Participant), Ingeborg Liebaers (Member of programme committee), Eva Sammels (Participant), Sara Seneca (Participant), Ileen Slegers (Participant), Katrien Stouffs (Chair), Sophie Uyttebroeck (Participant), Annelore Van Der Kelen (Participant), Andre Van Steirteghem (Member of programme committee), Elise Vantroys (Participant), Boyan Dimitrov (Participant)17 Sep 2021Activity: Participating in or organising an event › Participating in or organizing an event at an external academic organisation
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Maternally inherited differences in mitochondrial DNA genotype between ART and spontaneously conceived individuals are aggravated by controlled ovarian stimulation and link to low birth weight
Joke Mertens (Speaker), Florence Belva (Contributor), Aafke PA van Montfoort (Contributor), Filippo Zambelli (Contributor), Edouard Couvreu De Deckersberg (Contributor), Mary-Louise Bonduelle (Contributor), Herman Tournaye (Contributor), Katrien Stouffs (Contributor), Sara Seneca (Contributor), Kurt Barbé (Contributor), Hubert J M Smeets (Contributor), Hilde Van De Velde (Contributor), Karen Sermon (Contributor), Christophe Blockeel (Contributor), Claudia Spits (Contributor)28 Nov 2020Activity: Talk or presentation › Talk or presentation at a conference
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Differences in the landscape of mitochondrial DNA variants between ART and spontaneously conceived individuals links to maternal infertility and low birth weight
Joke Mertens (Speaker), Filippo Zambelli (Contributor), Florence Belva (Contributor), Aafke PA van Montfoort (Contributor), Edouard Couvreu De Deckersberg (Contributor), Mary-Louise Bonduelle (Contributor), Katrien Stouffs (Contributor), Sara Seneca (Contributor), Hilde Van De Velde (Contributor), Christophe Blockeel (Contributor), Karen Sermon (Contributor), Claudia Spits (Contributor)5 Jul 2020 → 8 Jul 2020Activity: Talk or presentation › Talk or presentation at a conference
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20th Annual meeting of the Belgian Society of Human Genetics
Thomy De Ravel De L'Argentiere (Participant), Frederik Jan Hes (Participant), Veerle Berckmoes (Participant), Ben Caljon (Participant), Kim De Hauwere (Participant), Martine De Rycke (Participant), Annelies Fieuw (Participant), Alexander Gheldof (Participant), Lisa Kerkhove (Participant), Kathelijn Keymolen (Chair), Catharina Olsen (Participant), Sara Seneca (Participant), Ileen Slegers (Participant), Katrien Stouffs (Participant), Melissa Sys (Participant), Sophie Uyttebroeck (Participant), Kim Van Berkel (Participant), Sonia Van Dooren (Participant), Elise Vantroys (Participant), Pieter Verdyck (Participant), Hamide Yildirim (Participant), Boyan Dimitrov (Participant), Ann Van Den Bogaert (Participant), Dirk De Smedt (Participant), Dorien Daneels (Participant), Bruno Hinckel (Participant), Simon Denil (Participant), Kathelijn Keymolen (Member of programme committee), Maria Filomena Cuevas Y Bretones (Participant)6 Mar 2020Activity: Participating in or organising an event › Participation in conference
Thesis
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Copy number variations in Men with Sertoli Cell-only Syndrome
Author: Omodho, L., Bonduelle, M., Stouffs, K. & Lissens, W., 2011Student thesis: Master's Thesis
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Functional characterisation of genes involved in cortical malformations: RTTN and it’s link with DNA damage
Author: Vandervore, L. & Callebaut, K., 2019Supervisor: Jansen, A. (Promotor), Stouffs, K. (Promotor) & Vandervore, L. (Co-promotor)
Student thesis: Master's Thesis
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FUNCTIONAL CHARACTERIZATION OF GENES INVOLVED IN THE DEVELOPMENT OF THE HUMAN BRAIN.
Author: Jansen, A. & Vandervore, L., 20 Jun 2019Supervisor: Jansen, A. (Promotor), Stouffs, K. (Promotor), Mancini, G. (External person) (Co-promotor), Gheldof, A. (Co-promotor), van Grunsven, L. (Jury), Smolders, I. (External person) (Jury), Spits, C. (Jury), Van Esch, H. (External person) (Jury), Nguyen, L. (External person) (Jury) & Hofstra, R. (External person) (Jury)
Student thesis: Doctoral Thesis
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FUNCTIONAL CHARACTERIZATION OF GENES INVOLVED IN THE DEVELOPMENT OF THE HUMAN BRAIN.
Author: Vandervore, L., Jansen, A., Stouffs, K., Mancini, G., Gheldof, A., Hofstra, R., Laurent, N., Van Esch, H., Spits, C., Smolders, I. & van Grunsven, L. A., 12 Sep 2019Supervisor: Jansen, A. (Promotor), Stouffs, K. (Promotor), Mancini, G. (External person) (Co-promotor), Gheldof, A. (Co-promotor), Hofstra, R. (External person) (Jury), Nguyen, L. (External person) (Jury), Van Esch, H. (External person) (Jury), Spits, C. (Jury), Smolders, I. (Jury) & van Grunsven, L. (Jury)
Student thesis: Doctoral Thesis
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Genen betrokken bij mannelijke onvruchtbaarheid
Author: Stouffs, K., Van Steirteghem, A., Liebaers, I. & Lissens, W., 2004Supervisor: Van Steirteghem, A. (Promotor), Liebaers, I. (Co-promotor) & Lissens, W. (Co-promotor)
Student thesis: Master-after-master