[TECHtalk] Challenges of Bioinformatics in Clinical Diagnosis

    Angela del Pozo
    La Paz University Hospital, Spain



    The implantation of next-generation sequencing (NGS) in Medical Genetics services has entailed a great advance in the understanding of the molecular basis of a wide set of diseases, increasing significantly diagnostic yields in many of them. As a consequence, mass sequencing has generated a paradigm shift. This change is due first to the complexity of the technique and the need of setting new laboratory protocols to address particular technological issues and second, to the inclusion of new professional profiles that contribute to the quality and interpretability of the analized data. An example, Bioinformatics has been included in laboratory areas that were traditionally occupied by biomedical sciences. This talk will try to address all these aspects in order to introduce the audience in the analysis of data of massive sequencing and in the challenges that this analysis supposes in clinical setting.



    Ángela del Pozo Maté has a degree in Physical Sciences from the Autonomous University of Madrid with the specialties of Solid State Physics and Theoretical Physics. She begun as bioinformatician in 2004 and since then she has worked in leading national research centers such as the National Biotechnology Center (CNB-CSIC) and the National Oncology Research Center (CNIO). Previously, she developed her research work in private companies as an R&D analyst, developing and implementing solutions based on Artificial Intelligence and Pattern Recognition applied to the area of document processing.


    Currently, she coordinates the Bioinformatics Section of the Institute of Medical and Molecular Genetics (INGEMM) of La Paz University Hospital in Madrid where she carries out the analysis of the diagnostic studies based on next-generation sequencing (NGS).


    During this time, she has published more than 30 scientific articles, has participated in numerous international conferences and has been part of competitive projects financed in public and private calls as principal and associate researcher.



    Host: Jose Luis Mosquera