Ignatia B. Van den Veyver, MD

Our research focuses on genetics and epigenetics of reproductive disorders; imprinting; genetics of Aicardi syndrome; prenatal gene-environment interactions and prenatal genetics.

In our first project, we study complete hydatidiform moles (CHM), an abnormal development of the human placenta. Most CHM have a genome that is inherited from the father only, suggesting that imbalance of imprinted gene expression causes CHM. Imprinted genes are genes for which only one of its two copies is active, and which copy depends on whether it was inherited from the mother or father. Our research focuses on understanding the cause of a much rarer form of recurrent hydaditidoform moles that have a normally inherited genome but still show generalized defects of imprinting. Mutations in two genes, NLRP7or KHDC3L,have been found in women with these abnormal pregnancies. We currently study embryonic stem cell culture models to characterize the function of NLRP7and KHDC3Land are also characterizing the role of a homologous gene, Nlrp2, in mice. This will help us better understand how imprinting is established in the germline.

In the second project, we investigate in mice the mechanisms by which maternal diet or an adverse prenatal environment affect disease risk in offspring. We found that maternal low protein diet alters muscle growth and expression of cohesins in liver of offspring and are currently studying how this alters the behavior of offspring. We are also studying in genetic mouse models for autism whether adverse prenatal exposures, such as inflammation, stress and certain antidepressants worsen the phenotype in offspring and by which mechanisms. We hope that this may help us develop measures to reduce the consequences of these exposures.

My lab also performs research to find the cause of Aicardi syndrome (AIC) a severe X-linked disorder that only affects girls. Children with AIC have developmental defects of eyes and brain, severe seizures and intellectual disability. We are performing high-throughput sequencing and other genetic studies to search for the mutation that causes AIC. We also perform detailed clinical phenotyping in collaboration with other investigators at BCM (Dr. V. Reid Sutton and Dr. Richard A. Lewis).

Finally, I am also interested in the clinical application of new technologies for prenatal diagnosis of genetic disorders and chromosomal abnormalities in the fetus and how such new methods are integrated in the clinical care of pregnant women. We are particualry interested in new non-invasive methods for prenatal genetic screening and diagnosis and in application of new technologies to improve the prenatal diagnosis of the cause of birth defects found in the fetus.