Discovering molecular mechanisms underlying genetic etiology of human disease


  • Louella Vasquez Science for Life Laboratory, Sweden


Many human complex diseases are characterized by dysregulation of immune and inflammatory activity. The success of genome-wide association studies in the past decades has contributed to expanding catalogs of implicated genes and pathways in human disease. However, the disease variants map predominantly to noncoding and intergenic regions of the human genome where functional relevance to a disease could be difficult to elucidate. I will present previous works on large scale mapping of the epigenome and transcriptome of immune cells where we have generated an atlas of highly coordinated genomic changes and defined molecular events that may underpin complex disease risk.

About the Speaker

Louella Vasquez, Science for Life Laboratory, Sweden

Louella Vasquez is a graduate of the National Institute of Physics (NIP) at the University of the Philippines Diliman. At NIP, she was mentored by two outstanding women physicists, namely Professor Zenaida Domingo and Professor Cristine Villagonzalo. Louella obtained her PhD in Physics from the University of Warwick in the UK. Her physics research was mainly computational modeling in condensed matter physics, specifically in relation to the thermodynamics of carbon nanotubes and the multifractal electronic state in a quantum phase transition. After finishing her PhD, she joined the Wellcome Trust Sanger Institute in Cambridge as a postdoctoral fellow and eventually as a staff scientist in the human genetics department. After six years at Sanger, she moved to a Cambridge liquid biopsy company as a senior data scientist. In 2019, she moved to Sweden and joined the Science for Life Laboratory as a bioinformatician in data driven life science, a position she currently holds.



Article ID



Invited Presentations



How to Cite

L Vasquez, Discovering molecular mechanisms underlying genetic etiology of human disease, Proceedings of the Samahang Pisika ng Pilipinas 40, SPP-2022-INV-2A-04 (2022). URL: