Profile photo Renske Oegema

Renske Oegema

Assistant Professor - medical

Strategic program(s):

Biography

I work as a Clinical Geneticist and Assistant Professor in the UMC Utrecht. I engage daily with patients afflicted by neurodevelopmental disorders (NDDs) such as autism and epilepsy. In 2018 I took a leading role in setting up the multidisciplinary clinic for developmental disorders in the UMC Utrecht Wilhelmina Children’s Hospital, providing early diagnostics and support for children with developmental delay. Witnessing their long diagnostic odyssey and lack of effective treatments strongly fuels my dedication to enhance our understanding of these disorders. I effectively combine my clinical and research skills by leading a translational research group. My research  is centered around four objectives:

-       Discovering novel disease genes and variants implicated in NDDs

-       Establishing and analyzing patient cohorts of rare/ newly discovered NDDs

-       Developing functional assays/ biomarkers to assess rare genomic variants

-       Unravelling underlying disease mechanisms using in vitro cellular models

I integrated my PhD on Malformations of Cortical Development (MCD) with my clinical training in the Department of Clinical Genetics at the Erasmus MC, Rotterdam (2011-2016). During this trajectory my primary focus was on neurogenetics and gene discovery, for which I obtained comprehensive training in syndrome delineation, brain imaging and genotype-phenotype analysis. Concurrently, I obtained laboratory skills, including culturing cell lines, immunofluorescence, and the analysis of exome and genome sequencing and genome-wide expression data.

Recently, I have delineated a novel NDD, the KDM2B-associated syndrome. My group is currently investigating the molecular mechanisms of the KDM2B syndrome and its effect in neuronal differentiation. We employ in vitro neuronal cell models, utilizing induced pluripotent stem cells technologies to differentiate patients’ cells into neuronal cell lines.

To accelerate research collaborations, and to share and disseminate knowledge I acted a co-founder and co-leader of the European network for brain malformations Neuro-MIG (2016-2021). I regularly perform peer reviews and I have contributed to patient information on the websites of the Dutch Epilepsy foundation (EpilepsieNL) and Brain Foundation (Hersenstichting).

Recent publications

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Sébastien Küry, Janelle E Stanton, Geeske van Woerden, Tzung-Chien Hsieh, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, McV Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frédéric Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas M Grabrucker, Francois V Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger
2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Renske Oegema,
2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Renske Oegema, Richard H van Jaarsveld, Rafiullah Rafiullah, Gudrun A Rappold, Rachel Rabin, John G Pappas, Marsha M Wheeler, Michael J Bamshad, Yao-Chang Tsan, Matthew B Johnson, Catherine E Keegan, Anshika Srivastava, Stephanie L Bielas
Cell death & disease, 2024, vol. 15
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik, Christian Gilissen, Rolph Pfundt, Chiara Klöckner, Konrad Platzer, Annick Klabunde-Cherwon, Markus Ries, Steffen Syrbe, Francesca Beccaria, Francesca Madia, Marcello Scala, Federico Zara, Floris Hofstede, Marleen E H Simon, Richard H van Jaarsveld, Renske Oegema, Koen L I van Gassen, Sjoerd J B Holwerda, Tahsin Stefan Barakat, Arjan Bouman, Marjon van Slegtenhorst, Sara Álvarez, Alberto Fernández-Jaén, Javier Porta, Andrea Accogli, Margherita Maria Mancardi, Pasquale Striano, Michele Iacomino, Jong-Hee Chae, SeSong Jang, Soo Y Kim, David Chitayat, Saadet Mercimek-Andrews, Christel Depienne, Antje Kampmeier, Alma Kuechler, Harald Surowy, Enrico Silvio Bertini, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Marco Tartaglia, Lucas Gauthier, David Genevieve, Mylène Tharreau, Noy Azoulay, Gal Zaks-Hoffer, Nesia K Gilad, Naama Orenstein, Geneviève Bernard, Isabelle Thiffault, Jonas Denecke, Theresia Herget, Fanny Kortüm, Christian Kubisch, Robert Bähring, Stefan Kindler
American Journal of Human Genetics, 2024, vol. 111, p.1206-1221
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, Sadegheh Haghshenas, Raissa Relator, Peter Lauffer, Niels Vos, Michael A Levy, Nicola Brunetti-Pierri, Gaetano Terrone, Cyril Mignot, Boris Keren, Thierry Billette de Villemeur, Catharina M L Volker-Touw, Nienke Verbeek, Jasper J van der Smagt, Renske Oegema, Alfredo Brusco, Giovanni Battista Ferrero, Mala Misra-Isrie, Ron Hochstenbach, Mariëlle Alders, Marcel M A M Mannens, Bekim Sadikovic, Mieke M van Haelst, Peter Henneman
Genetics in medicine : official journal of the American College of Medical Genetics, 2023, vol. 25
When brain size matters Renske Oegema
Brain : a journal of neurology, 2023, vol. 146, p.3112-3113