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Genetic and genomic data analysis for monogenic and complex diseases

The main research interest is in clinical genetics and genomics, with a particular focus on the identification and characterization of genes associated with sensory disorders. We are a clinical/experimental research group involving experts from different fields (biologists, biotechnologists, bioinformaticians, biostatisticians and physicians) of both IRCCS Burlo Garofolo and the University of Trieste.
In particular our group is working towards the identification of genetic and genomic bases of the human diseases. We focus on monogenic disorders in patients and their families recruited within Burlo Garofolo hospital, as well as on multifactorial traits/diseases in individuals from isolated populations coming from Europe, Caucasus, and Central Asia, for which we collected more than 150 medical parameters. We employ deep sequencing and high-throughput genotyping to identify new genes/variants using the latest genomic technology. Our work has provided the link between gene discovery and clinical diagnosis leading to identifying many different genes associated with monogenic and complex disorders paving the way for personalized medicine.
Our work established several national and international collaborations, giving our students the possibility of visiting foreign institutes throughout the PhD program.

Contacts
Paolo Gasparini
Department of Medical Sciences
University of Trieste
✉︎ pgasparini@units.it
✉︎ paolo.gasparini@burlo.trieste.it
ORCID
ArTS (List of Pubblications)

Giorgia Girotto
Department of Medical Sciences
University of Trieste
✉︎ ggirotto@units.it
✉︎ giorgia.girotto@burlo.trieste.it
ORCID
ArTS (List of Pubblications)

 

Last updated on: 05/18/2021 - 12:24