Institute for Genetic and Biomedical Research (IRGB)


Lack of follicle development causes ovarian failure in Foxl2 knockout mice.

Female infertility is a common condition, affecting about 1% of all women. A frequent cause is premature ovarian failure which is a heterogeneous disorder resulting from chromosomal aberrations, genetic conditions, autoimmune ovary destruction, enzymatic defects, infectious or iatrogenic factors. The clinical features consist in incomplete menarche , secondary amenhorrea or early menopause. Our group recently identified a new gene, FOXL2 which belongs to the family of the transcription factor ...


Wilson disease is an autosomal recessive disorder of copper transport characterized by reduced copper incorporation into ceruloplasmin, and by impaired copper biliary excretion. This results in progressive copper accumulation in the liver and subsequently in the brain, cornea, and other tissues. So tissue damage and symptoms in WD are the result of the toxic effect of copper overload. While the incidence of WD is approximately 1/50-100000 live births world wide, in Sardinia it is approximately ...

Identification of the first gene involved in Female Infertility

Female Infertility is a common condition affecting about 1% of women worldwide. The majority of these women have an alteration of their ovarian function. In spite of the relevance of this disorder the causes of the infertility are still unknown in the most part of the cases. With our research we have been able to identify a new gene, FOXL2, representing the first gene involved in the development and maintenance of ovarian follicles. The study of this gene will lead to new prospective for the ...