mole is an aberrant human pregnancy with no embryo that has fascinated
and puzzled scientists in all civilizations. This condition is of
ancient recognition and its description figures in Hippocrates’ manuals
under the name of dropsy of the uterus. The sporadic form of
hydatidiform moles is common and occurs in 1 in every 600 pregnancies
in western countries, but at higher frequencies in other parts of the
world. By analyzing rare familial cases of hydatidiform moles, we
identified the first defective maternal gene, NLRP7, responsible for this condition. NLRP7 is a member of a family of proteins with roles in inflammation and apoptosis.
The current research activities of my group are focused on (i) elucidating the exact role of NLRP7 in the patho-physiology of moles, (ii) investigating the role of NLRP7 and its inflammatory pathway in all types of moles, and (iii) identifying other genes for these conditions.
Our goal is to be able to help patients by providing appropriate DNA testing and genetic counseling.