Genetic Studies in Gestational Trophoblastic Disease
This project analyses the origins of an abnormal pregnancy development, called hydatidiform moles (HM) or gestational trophoblastic disease. HM are caused by defects in genetic imprinting. There are two goals to this project. The first is to find new imprinted genes by studying the tissues of a sporadic form of HM that results from androgenetic inheritance. The second is to find and characterize the mutations causing recurrent HM.
We believe that this mutation causes a general disturbance in genetic imprinting and that the mutant gene is important for switching of parental imprinting marks. Finding new imprinted genes as well as gaining insight into the mechanisms that regulate imprinting in the germline, will improve our understanding of imprinting disorders in general. Many imprinting disorders are associated with mental retardation or other developmental disabilities.
Relevance of the project to IDDRC mission:
There are several examples of known imprinted genes that have been associated with mental retardation or other developmental disabilities when mutated or when their imprinting marks are abnormal. We believe that finding new imprinted genes or better understanding of the basic mechanisms of genetic imprinting will benefit insight into mental retardation and developmental disabilities.