Genetics

The research activity of the group has been mainly focused  on the molecular genetics of human reproduction. Studies from our group were among the first to evidence microdeletions of the long arm of the Y chromosome in infertile males, providing useful data about the prevalence of these deletions in infertile males, and allowed to characterize at the molecular level  some of the genes involved in these rearrangements, with particular regard to VCY2 (BPY2) and TSPYq1. Subsequently, our activity has been mainly devoted to the study of the expression profiles of normal and pathological human tissues, particularly the transcriptome of the testis in normal and infertile patients. More recently, the group shifted to study the epigenetic mechanisms involved in male infertility and in the transgenerational effect of male exposure to environmental agents.

Another important  field of interest of the group is represented by the characterization of the SHOX gene in patients with Leri Weill disease or short stature. In this area our lab is one of the few national reference centers.

In the field of cancer research, the group has been one of the first in Italy to be involved in  the screening of mutations of BRCA1 and BRCA2 genes in patients with familiar breast cancer, now carried out using NGS and a targeted multigene panel representative of the main genes involved in  hereditary cancer.

Finally, our most recent research field lab is represented by the genetic study of amniotic fluid stem cells. Our group published several reports describing the specific features of this cellular model and its usefulness in regenerative medicine.

Our research activity is supported by several national competitive obtained in recent years.