Barbora Straka, MD, PhD
Team Leader
barbora.straka@lfmotol.cuni.cz
Neurogenetics Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital
Scientific background
As a team member of the Neurogenetics Laboratory of the Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital, I am dedicated to diagnostics and research of genetic origins of malformations of cortical development (MCD). At the same time, I work in the Laboratory of Molecular Pathology at the Department of Pathology and Molecular Medicine where our team provides routine predictive and diagnostic genetic testing for clinical and research purposes, especially of tumour tissue, utilising methods of next-generation sequencing (NGS). At the same time, we use NGS-based methods to detect causal pathogenic variants in brain tissue samples obtained in epilepsy surgery and correlate the genetic findings with phenotypic features, such as surgical outcome, clinical picture, etc.
Research interests
My research interests are focused on the role of germline and somatic pathogenic variants in the formation of malformations of cortical development (MCD). Utilising the methods of exome and genome sequencing, my colleagues from the Neurogenetics laboratory and Laboratory of molecular pathology and myself, we look for genetic variants in genes previously not associated with MCD. At the same time, we are curious about the role polygenic systems play in the origin of complex phenotypes in MCD patients.
Selected publications
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D’Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. Neurology. 2023 Jan 31;100(5):e528-e542. https://doi.org/10.1212/WNL.0000000000201471
Straka B, Hermanovska B, Krskova L, Zamecnik J, Vlckova M, Balascakova M, Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P. Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study. Neurol Genet. 2022 Sep 27;8(5):e200032. https://doi.org/10.1212/NXG.0000000000200032
Benova B, Sanders MWCB, Uhrova-Meszarosova A, Belohlavkova A, Hermanovska B, Novak V, Stanek D, Vlckova M, Zamecnik J, Aronica E, Braun KPJ, Koeleman BPC, Jansen FE, Krsek P. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? Eur J Paediatr Neurol. 2021 Jan;30:88-96. https://doi.org/10.1016/j.ejpn.2020.12.001
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d’Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 Feb;21(2):398-408. https://doi.org/10.1038/s41436-018-0060-2