PhD defence by Adrian Otamendi Laspiur

On Tuesday 31 October, Adrian Otamendi Laspiur will defend his PhD thesis "Precision Medicine Bioinformatics of Childhood Cancer in Denmark".

Time: 13.00

Place: Building 101, Meeting Room S09

Supervisor: Associate Professor Elena Papaleo, DTU Health Tech
Co-Supervisor: Associate Professor Cornelis Jan Hendrik Pronk, Lund University

Clinical Professor Kjeld Schmiegelow, Copenhagen University Hospital

Assessment committee:
Associate Professor Carolina Barra Quaglia, DTU Health Tech
Head of Bioinformatics Frederik Otzen Bagger, Rigshospitalet
Full Professor Gianluca Lattanzi, University of Trento

Chairperson:
Professor Ole Lund, DTU Health Tech

Abstract:
Cancer has always been one of the most challenging and heartbreaking battles, especially when it affects children. In Denmark, a groundbreaking initiative called iCOPE (Interregional Childhood Oncology Precision Medicine Exploration) was launched to improve the lives of children with cancer by implementing a personalized medicine approach. At the forefront of this initiative, a dedicated PhD project has been instrumental in advancing the understanding of childhood cancer through cuttingedge bioinformatics and Next Generation Sequencing (NGS) technologies. The heart of this PhD research lies in establishing a robust set of NGS workflows within a High-Performance Computing (HPC) environment and applying it to real-world clinical data to address important cancer research questions. These sophisticated workflows allowed for the efficient detection, annotation, and storage of germline and somatic short variants (SNV) as well as structural variants (SV) from Danish children with cancer. By establishing robust NGS workflows and applying them to real-world clinical data, we have deepened our understanding of the genetic basis of childhood cancers, identified potential cancer predisposition syndromes, and laid the groundwork for more precise and personalized treatments for young patients.