PROJECT
SUPERVISORS
Project Supervisor
Lluís Armengol
Background
I hold a degree in Biochemistry from the Universitat de Barcelona (UB, Spain) and a PhD in Biology, completed at the Centre for Genomic Regulation (CRG, Barcelona) within the Human Genetics research group led by Dr. Xavier Estivill. My doctoral work combined experimental and bioinformatic approaches to investigate segmental duplications and copy-number variation, and their contribution to human evolution and disease. I also carried out postdoctoral research at CRG, further strengthening my interdisciplinary profile at the interface of wet-lab genomics and computational analysis.
In 2008, I co-founded qGenomics, where we developed and launched multiple omics-based tools for the diagnosis of human genetic disease. Since the company’s inception, I have served as both CEO and CSO, defining its strategic direction and leading the development and translation of new genomic solutions into the market and clinical practice.
Research
Our work bridges clinical genomics and applied innovation in genomic technologies. We focus on developing and validating NGS-based workflows and analytical strategies that improve diagnostic yield and clinical utility, with a particular interest in structural variation, biomarker discovery, and translation into routine practice.
This is the case of cell-free DNA (cfDNA), a biomarker that harbours different kinds of information, including the genetic and epigenetic footprints of the tissues from which it originates. cfDNA is already extensively used in prenatal diagnostics (NIPT), and we have been focused on its use as a tool to monitor tumour relapse. For the present project we will be exploring the possibility of developing tools to monitor tumour relapse in an individualised and scalable manner, making personalised tumour and treatment follow-up a reality in a minimally invasive manner.
Publications
Gehin C, Lone MA, Lee W, et al.; Armengol L. (2023) CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. J Clin Invest 133(10):e165019. doi:10.1172/JCI165019.
Valls-Margarit J, Galván-Femenía I, Matías-Sánchez D, et al.; Armengol L. (2022) GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing. Nucleic Acids Res 50(5):2464–2479. doi:10.1093/nar/gkac076.
Canut MI, Villa O, Kudsieh B, et al.; Armengol L, Casaroli-Marano RP. (2021) MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension. Sci Rep 11:1583. doi:10.1038/s41598-020-80954-2.
Redon R, Ishikawa S, Fitch KR, et al.; Armengol L, Estivill X. (2006) Global variation in copy number in the human genome. Nature 444:444–454. doi:10.1038/nature05329.
Mefford HC, Sharp AJ, Baker C, et al.; Armengol L, Estivill X. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359(16):1685–1699. doi:10.1056/NEJMoa0805384.