Decoding complex disease, bridging gaps between genotype and phenotype a data-driven approach

Francesco Gualdi (IMIM)
Decoding complex disease, bridging gaps between genotype and phenotype a data-driven approach

Abstract: Unraveling how the genetic landscape influences the genetics of complex diseases poses a formidable challenge within the realm of translational medicine. Encompassing issues such as delineating a phenotype, integrating and accessing heterogeneous data efficiently, and selecting biomarkers wisely are obstacles yet to be overcome that necessitates collaborative efforts across diverse disciplines. Recent years have witnessed notable advancements in omics technologies, thereby enhancing our comprehension of the etiology of complex diseases. This session explores novel technology for biomarker discovery and methods to understand how the genotype translates into downstream biological pathways for complex disease development.

Biosketch: Francesco Gualdi, a PhD candidate specializing in biomedicine, is a member of the Disc4all Maria
Skłodowska Curie ITN program. He earned his Bachelor of Science in Biology from the University of Ferrara in 2017, focusing on characterizing cells derived from the Intervertebral disc. In 2020, he completed his Master of Science at the University of Verona under within structural biology group, with his thesis centered on constructing a database of Human curated GPCR structures. the Integrative Biomedical Informatics Group of the Research Programme on Biomedical Informatics, GRIB (IMIM (UPF). His primary research objective is to unravel the genetic underpinnings of complex disorders like intervertebral disc degeneration. His work involves the creation of bioinformatics tools utilizing network data and artificial intelligence techniques to identify and prioritize genes potentially implicated in human diseases.