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Genetics, Genomics and Epigenetics of Diseases


This research area aims at discovering the genetic and epigenetic basis of rare and common diseases as well as the relationship between genes and environment through next-generation genome-wide methodologies and functional studies in a variety of model systems.

Several research lines are focused on the study of multifactorial diseases aiming at the identification of both genes and causal variants involved in complex traits such as cardio-metabolic diseases and related quantitative traits through genome-wide linkage and association analyses in homogeneous populations, which provide powerful advantage for the discovery of low-frequency and rare variants involved in complex traits. Other research lines aim at

i) the identification and functional characterization of genetic variants under natural selection, in healthy and pathological conditions through population genetics approaches;

ii) deciphering the molecular mechanism of human diseases, such as diabetes and thyroid cancer, coupling next generation sequencing and bioinformatics to further experimental approaches; and

iii) understanding the functional involvement of HLA class II gene expression in coeliac and other autoimmune diseases.

Further research lines are focused on rare genetic diseases affecting bone remodeling, nervous system and skin development, or causing kidney failure, heart block disease, cardiomyopathy, myopathy or more in general multi-systemic disorders. The aim is to understand the role of disease genes in physiological and pathological conditions and develop in vitro and in vivo models to study disease mechanisms. A recent approach, strictly related to genomic disorders, is the development and patenting of new methods for molecular diagnosis in community-based study of patients’ cohort.

Some of the genetic disorders under investigation concern the study of components of the epigenetic machinery (chromatin diseases; CD) or alteration of genetic imprinting, thus offering a unique opportunity to understand the interactions between genetics and epigenetics in development and pathophysiology. In these studies locus specific and genome-wide epigenetic and genetic analysis are employed to determine the alterations of the epigenetic landscape as well as the role of non coding RNAs and transcription factors in shaping genomic architecture in normal and pathological conditions. The identification of cis-acting elements, epigenetic modifications and trans-acting factors involved in the establishment and maintenance of genomic imprinting is also studied.

The main objective of this research area is to provide a detailed and compelling genetic diagnosis, the identification of prognostic biomarkers and the development of targeted therapeutic strategies for common and rare diseases.


Genetics, Genomics and Epigenetics of Diseases


Alfredo Ciccodicola

Marco Corona

Valerio Costa

Maurizio D'Esposito

Giovanna Del Pozzo

Floriana Della Ragione

Roberta Esposito

Teresa Esposito

Francesca Fusco

Fernando Gianfrancesco

Giovanna Grimaldi

Giuseppina Lacerra

Maria R Matarazzo

Andrea Riccio

Maria Strazzullo

Matilde Valeria Ursini

Marcella Vacca

Population Genetics and Genetic Epidemiology


Marina Ciullo

Vincenza Colonna

Teresa Nutile