Project Update 15.04.2020
The primary focus of my research at the University Medical Centre of Groningen (The Netherlands) is to explore the genetic causes of primary open angle glaucoma (POAG). Currently, I am performing a genome-wide association study for scanning markers in the genome. I am also exploring the contribution of mitochondrial DNA and copy number variations in relation to the increase of susceptibility to POAG.
As a fervent researcher in the field of genetics, I would like to continue my studies on sequencing methods. My goal is to improve my existing expertise in bioinformatics and genetics, with a focus on clinical applicable research.
My EGRET+ Experience:
EGRET+ project is giving me valuable opportunities to study and do research in an international level. This include experiences in both public sector and scientific industry. Furthermore, it is a quite unique opportunity to develop key skills for every independent researcher that includes, but are not limited to, grant-writing, business start-up planning, and interdisciplinary networking.
Genetics of glaucoma in GLGS and Lifelines
Prof. Nomdo Jansonius (Ophthalmology)
Prof. Arthur Bergen (Clinical Genetics)
Background and interests
I am Valeria Lo Faro and I am from Italy. I carried out my studies at the University of Catania, where I got my Bachelor of Science in Biology after I took part in different projects concerning the study of miRNAs and their correlation with onset of glioblastoma.
However, it was during the years of my Master’s degree, that I became deeply fascinated by genetics. I pursued my internship in the Laboratory of Human Genetics of the University Hospital. The case study of my thesis implied genotyping a family with intellectual disability and then accomplish a bioinformatics analysis on the exome sequences of selected pedigrees.
My main research interests are focused on the elucidation of human disease, in order to improve the quality of diagnosis.
Aim of the project
Primary open angle glaucoma (POAG) is a complex disease, with a high heritable component and in most of the cases, it is due to the effects of several genes and gene-environment interactions. Being a genetically complex disease, the principal objectives of the study require finding new common and rare disease variants in order to associate individual genetic profiles with clinical phenotypes. The results could help to understand the mutations that may lead to an increase of the risk in patients.
During the first phase of my project, we will perform GWAS studies in the cohort of GLGS (Groningen Longitudinal Glaucoma Study) for the identification of common alleles, which are, either directly, or more probably in linkage disequilibrium with low risk factors of the disease.
We are also working on other parallel projects, for instance the comparison of our Dutch cohort of glaucoma patients with the population of Africa and the study of congenital glaucoma families.
Research gate: https://www.researchgate.net/profile/Valeria_Lo_Faro