Llicenciada en Biologia per la Universitat Autònoma de Barcelona (2008) i Doctora en Ciències de la Salut per la Universitat Internacional de Catalunya (2012). Actualment treballa com a genetista fent interpretació de dades de seqüenciació massiva d’ADN. La seva experiència docent s’ha desenvolupat a la University of Rostock.
Ha participat en diferents publicacions:
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Eur J Hum Genet. 2021 Jan;29(1):141-153. PMID: 32860008
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P.
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Acta Neuropathologica. 2020 Apr;139(4):791-794. PMID: 3200609
AlMuhaizea M, AlMass Rawan, AlHargan A, AlBader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi A, Arold ST, Colak D, Barakat TS, Kaya N.
Improvement of impaired electrical activity in NPC1 mutant cortical neurons upon DHPG stimulation detected by microelectrode array.
Brain Res. 2018 Sep 1;1694:87-93. PMID: 29753706
Feng X, Bader BM, Yang F, Segura M, Schultz L, Schröder OH, Rolfs A, Luo J
Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorder.
Neurogenetics. 2015 Apr;16(2):123-31. PMID: 25535174
Segura M, Pedreño C, Obiols J, Taurines R, Pàmias M, Grünblatt E, Gella A.
Uridine 5′-triphosphate promotes in vitro Schwannoma cell migration through matrix metalloproteinase-2 activation.
PLoS One. 2014 Jun 6;9(6):e98998. PMID: 24905332
Lamarca A, Gella A, Martiañez T, Segura M, Figueiro-Silva J, Grijota-Martinez C, Trullas R, Casals N.
Altered peripheral BDNF mRNA expression and BDNF protein concentrations in blood of children and adolescents with autism spectrum disorder.
J Neural Transm. 2014 Sep;121(9):1117-28. *These authors have equally contributed. PMID: 24500031
Taurines R*, Segura M*, Schecklmann M, Albantakis L, Grünblatt E, Walitza S, Jans T, Lyttwin B, Haberhausen M, Theisen FM, Martin B, Briegel W, Thome J, Schwenck C, Romanos M, Gerlach M.
UTP affects the Schwannoma cell line proteome through P2Y receptors leading to cytoskeletal reorganization.
Proteomics. 2012 Jan;12(1):145-56. PMID: 22065602
Martiáñez T, Carrascal M, Lamarca A, Segura M, Durany N, Masgrau R, Abian J, Gella A.
Is Ankyrin a genetic risk factor for psychiatric phenotypes?
BMC Psychiatry. 2011 Jun24;11:103. PMID: 21702894
Gella A, Segura M, Durany N, Pfuhlmann B, Stöber G, Gawlik M.
Ha impartit les següents conferències i posters:
Genetic findings from multi-gene panel for inherited myopathies
European Society of Humam Geneetics (ESHG), 2024 – Poster
Functional phenotypic screening of patient iPSC-derived motor neurons – in vitro HTS disease modeling with micro
electrode arrays coupled with AI-based analysis methods.
International Society for Stem Cell Research (ISSCR), 2018 – Poster
Functional in vitro Parkinson‘s Disease Modelling with Alpha-Synuclein.
Parkinson 2018 conference. Centre for Transdisciplinary Neuroscience, Rostock, Germany – Poster (premiat com a millor presentació en format poster)
Alpha-synuclein & Parkinson’s disease Conference: Lessons from the past 20 years at Barcelona, 2017 – Poster
Functional biomarker of rare and familiar diseases: NPC1 knockout neuronal networks phenotyped with HTS
microelectrode arrays and artificial intelligence machine learning methods.
SfN neuroscience, 2017 – Poster
Individual differences in responses to emotional pictures: an investigation using behavioural, fMRI and 1H MRS measures.
British Association for Cognitive Neuroscience, 2015 – Comunicació oral donada pel Prof. Wright
Autism Spectrm Disorders: a study of association with brain-derived neurotrophic factor and latrophilin- 3 polymorphism.
8th FENS Forum of Neuroscience, 2012 – Poster
Peripheral biomarkers in psychiatric diseases.
Research conference of Hospital Parc Taulí, 2011 – Comunicació oral
