Programa de Doctorat en Biomedicina

Recent Submissions

Multi-omics characterization of histone H1 variants genomic distribution and their contribution to chromatin compartmentalization and transposable elements regulation 

Serna Pujol, Núria (Date of defense: 2024-09-27)

The human histone H1 family comprises up to seven somatic subtypes. Using an integrative multi-omics approach that incorporates ChIP-Seq, Hi-C, RNA-Seq, and ATAC-Seq data, this thesis explores the genome-wide distribution ...

Desigualtats socials en salut en la població infantil a Catalunya: situació actual i perspectives d'acció 

Carrilero Carrió, Neus (Date of defense: 2024-09-27)

La present tesi descriu i analitza les desigualtats socials i econòmiques en la salut de la població infantil. Posa especial èmfasi en aquelles patologies més rellevants i en grups de població amb alt risc clínic. Altrament, ...

Género, vivienda y salud: encuentros con la vivienda desde una perspectiva interseccional 

Vásquez Vera, Constanza (Date of defense: 2024-09-27)

El objetivo de esta tesis es ampliar la comprensión de la relación entre vivienda y salud desde una perspectiva interseccional, y analizar los mecanismos que operan en esta relación. Realizamos tres estudios: 1) una revisión ...

Evolutionary genomics of gorillas: from ghost introgession to recent dispersal 

Pawar, Harvinder (Date of defense: 2024-09-26)

Population genetics addresses evolutionary change in populations through time. Here we take a multifaceted approach to uncover the evolutionary history of gorillas. Firstly, we modelled the demographic history of gorillas ...

Investigating protein functions of understudied genes, proteoforms and novel localisations 

Kourtis, Savvas (Date of defense: 2024-09-23)

The eukaryotic protein landscape, although extensively studied, still harbors a vast array of uncharacterized functional proteoforms that limit our understanding of biological processes. This thesis explores three aspects: ...

Design and implementation of a next-generation sequencing test for the fast and cost-effective SARS-CoV-2 differantial diagnosis and variant detection 

Montero Vale, María Mercedes (Date of defense: 2024-09-13)

In the beginning of 2020 the WHO declared a pandemic that was initiated by the outbreak of a new virus named as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that quickly spread globally, challenging our ...

Medical nanotechnology applications in regulatory science: strategic policy development for the regulatory assessment of nanotechnology-enabled health products 

Rodríguez Gómez, Francisco Diego (Date of defense: 2024-07-22)

Nanotechnology promises to revolutionize healthcare, but complex regulations slow its market introduction. This thesis examines the gap between nanomedicine research and its commercialization, addressing the 'valley of ...

A 3D multi-modal approach to study neuronal differentiation and tissue growth in the zebrafish hindbrain 

Blanc, Matthias (Date of defense: 2024-07-19)

The process by which the diversity of neurons making up the brain are produced relies on precise adjustments across space and time. Proneural genes are main drivers of neurogenesis across the different areas of the brain ...

Brain resilience, vulnerability, and modifiable risk factors in populations at risk of Alzheimer's disease 

Akıncı, Müge (Date of defense: 2024-07-18)

This thesis explores early pathophysiological processes related to Alzheimer’s disease (AD) and their associations with modifiable factors in cognitively unimpaired, middle-aged individuals at risk of AD. Through five ...

CSDE1 isoforms in cancer progression and suppression 

Ciocia, Annagiulia (Date of defense: 2024-07-18)

The RNA-binding protein CSDE1 is a key regulator of mRNA stability and translation, involved in a wide range of biological processes. Alterations of CSDE1 expression and/or genetic mutations have been found in neurode ...

Discovery and evolutionary analysis of novel genes and translated ORFs 

Montañés Domínguez, José Carlos (Date of defense: 2024-07-11)

This thesis analyzes the generation of new genes created de novo and evaluates their evolution mainly in yeast but also in flies. First of all, we used next generation sequencing technology to analyze both new sequences ...

The gastrulating zebrafish under heat waves and cold spells: developmental robustness and vulnerabilities under changing temperatures 

Lim, Jia Le (Date of defense: 2024-07-09)

Temperature affects all processes, including development, and yet, it remains unknown how and/or if underlying mechanical and biochemical events are coordinated to slow down development robustly at lower temperatures. Here, ...

Electrical conductivity of hepatic tissue and its manipulation by intraarterial infusion of glucose: preliminary in vivo experiences in rats and patients 

Sarreshtehdari, Amirhossein (Date of defense: 2024-07-05)

This study explores the potential of irreversible electroporation (IRE) in the treatment of scattered liver tumors, focusing on the electrical properties of the tissue. The administration of a 5% glucose solution (GS5%) ...

Mapping protein-coding genomes to phenomes: a phylogenetic perspective 

Valenzuela Seba, Alejandro (Date of defense: 2024-07-02)

In the current genomics era, it is essential to understand how the existing genomics diversity across evolution is linked to the enormous diversity we observe at the phenotypic level. Until now, Genome-wide association ...

Characterisation of walking in older adults: chronic obstructive pulmonary disease (COPD) as a case study 

Delgado Ortiz, Laura (Date of defense: 2024-07-02)

Background: Walking is crucial for an active and healthy ageing. Aim: To understand walking in ageing populations, and, as a case study, in chronic obstructive pulmonary disease (COPD). Methods: This thesis (in seven ...

"Somitogenesis unbound": dissecting the spatiotemporal control of mammalian embryo segmentation through in vitro models of development 

Costanzo, Maria (Date of defense: 2024-06-26)

Stem cell-based in vitro systems have recently been used to complement the study of developmental processes in the embryo. Somitogenesis, which segments a vertebrate body axis to establish its characteristic body plan, ...

Exploring the pathogenesis of rare disorders: novel approaches from genomics to transcriptomics 

Moreno Ruiz, Nerea (Date of defense: 2024-06-25)

Rare disorders have been presumed to be caused by monogenic variation for decades, hindering the diagnosis in some cases. With many rare disease patients still missing a molecular diagnosis after genetic testing, the ...

Systems biology perspectives on cellular senescence and inflammation 

Sabalic, Alda (Date of defense: 2024-06-21)

This thesis examines inflammation from the perspective of systems biology in two different situations: cellular senescence resulting from unresolved tissue damage and the acute immune response to the invasion of a pathogen, ...

Impacts of early-life vitamin D on child and adolescent health outcomes 

Sangüesa Boix, Júlia (Date of defense: 2024-06-13)

Els baixos nivells de vitamina D durant l’embaràs i els primers anys de la vida són freqüents en dones embarassades i en nadons i, a més, poden tenir implicacions per a la salut de l’infant a llarg termini. Malgrat això, ...

Biological brain-age prediction using machine learning on neuroimaging data: links with pathophysiological mechanisms, dementia risk factors and cognitive decline 

Cumplido Mayoral, Irene (Date of defense: 2024-06-07)

This thesis explores the links between neuroimaging-derived brain-age, which is computed using machine learning techniques, and different pathophysiological mechanisms, dementia risk factors and cognitive decline in ...