Omics Sciences

Genomics for the diagnosis of human pathologies


Head of Unit (ad interim)

Paola Carrera


The scientific interest of the group is focused on the study of different genetic human pathologies. The unit applies a genomic approach to investigate the genetics of several inherited diseases, such as heart, kidney, lung, neurological disorders and inherited cancers.

Research activity

Group research is based on molecular methods; in particular, massive parallel sequencing for whole exome or targeted resequencing are applied for detection of new disease genes and pathogenic variants. Collection and interpretation of the genetic data are also relevant for the correlation to the clinical features and phenotype stratification, contributing to the precision medicine.
Additional research lines in the laboratory focus on the development of circulating biomarkers for different pathologies. In particular, efforts are aimed at:
  • developing ultrasensitive assays for circulating nucleic acids biomarkers of diseases like cardiomyopathies, pre-eclampsia, type 1 diabetes, and a variety of cancers like those of the breast, colon and pancreas (liquid biopsy);
  • discovery of new candidate antigens and development of ultrasensitive assays for detection of autoantibody biomarkers of organ specific autoimmunity with a particular focus on type 1 diabetes and neurological immune mediated disorders.