Paola Benaglio, PhD

Dr. Paola Benaglio graduated in Biological Sciences (BS) and Molecular Biology (MS) at the University of Milan, Italy. She obtained her PhD in November 2013, at the Department of Medical Genetics, University of Lausanne (CH). The main focus of her thesis was to investigate the involvement of pre-mRNA splicing factor genes in autosomal dominant retinitis pigmentosa, an inherited retinal degeneration disease leading to blindness. She has been applying and optimizing NGS methods for large genetic screenings. And acquired experience in various aspects of modern human genetics research such as genotyping technologies, genetic data analysis, molecular biology, in vitro functional assays. Her main research interest is how human variants influence disease phenotypes and the potential of using NGS technologies to answer to this question. She joined Dr. Frazer's group in March 2014 as a postdoctoral scholar to study the effect of inherited human variants on gene regulation in the heart using iPSC derived cardiomyocytes.