Conferencia: Spatial-temporal genome architecture: understanding the contribution of non-coding (epi-)/mutations to disease development

El jueves 13 de enero el ISPA acogerá la conferencia Spatial-temporal genome architecture: understanding the contribution of non-coding (epi-)/mutations to disease development, con la que la investigadora Biola María Javierre abre el ciclo de conferencias sobre cáncer que el Instituto organizará a lo largo de 2022 con el patrocinio de Janssen. La charla tendrá lugar en el Salón de actos del HUCA a partir de las 13:00 h. La entrada es libre hasta completar el aforo.

Presentación de la ponente

Despite of my scientific early-stage, I have an outstanding publication record, including 27 scientific papers, 6 reviews and 2 book chapters (14, 3 and 4 of them as the first, last and corresponding author respectively), with an h index of 24, 2762 citations and an average impact factor of 13.389 (according to WOS, Publons and JCR). I have strong international networks, extensive and multidisciplinary collaborations worldwide, and solid leadership capabilities, being currently one of the most promising Young Investigators, as the L’Oréal-Unesco For Women in Science Research Award 2018 and the International Rising Talents 2019 L’Oréal-UNESCO reaffirm. I have been awarded with several fellowships and grants along my scientific career such as Ramon y Cajal, La Caixa Junior Leader, Plan Nacional, The European Hematology Association Advanced Research Grant, the German Leukemia Foundation Research Grant, the Lab AECC Grant and the Wellcome Leap-HOPE Program Grant among others. I am lecturer of the Master Course on Biomedicine at the University of Barcelona and I have acted as thesis jury in several occasions and invited speaker in different academic and non-academic activities. I am actively contributing to the shaping of the IJC, as organizer of the PhD Student Seminars and member of the Gender Equality Committee. In addition, I have extended reviewing activities as guest editor (Genes Journal), ad-hoc reviewer (Nature Communications, Genomics, proteomics & Bioinformatics, GigaScience or Genes among others), expert referee (Spanish State Research Agency, European Research Council, Dutch Cancer Society and Polish National Science Center) and jury member of the King Jaume I Award.

Temática de la charla

Associations between complex diseases and genetic and epigenetic alterations, including both inherited  and acquired mutations and epimutations, have been well characterized. However, the majority of these alterations affect noncoding regions, making their mechanisms difficult to hypothesize and hindering the translation of these insights into patient benefits. Fueled by unprecedented progress in next-generation sequencing and computational integrative analysis, we apply combinations of epigenetic, genome architecture, and functional assays to bridge the gap between noncoding alterations and blood related diseases. These complementary tools not only allow us to understand their potential pathogenic roles, but also to differentiate the key ealteretions, cell-types, and conditions from misleading ones.