Positions

Professor
Obstetrics and Gynecology
Maternal Fetal Medicine
Baylor College of Medicine
Houston, TX, US
Member
Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas, United States

Education

Fellowship at Baylor College Of Medicine
Maternal-Fetal Medicine
MD from University of Antwerp
Residency at University Of Antwerp affiliated hospitals
Obstetrics and Gynecology
Clinical Fellowship at Baylor College Of Medicine
Genetics

Professional Interests

  • Genetics and epigenetics of reproductive disorders; Aicardi syndrome; prenatal gene-environment interactions; prenatal genetics

Professional Statement

My lab 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 mental retardation. We are performing high-throughput sequencing studies to search for the mutation that causes AIC and detailed clinical phenotyping in collaboration with other investigators at BCM (Dr. V. Reid Sutton and Dr. Richard A. Lewis).

In our second project, we study complete hydatidiform moles (CHM), an abnormal development of the human placenta. Most CHM are diploid androgenetic (AnCHM) with a paternally inherited genome, suggesting that imbalance of imprinted gene expression causes CHM. Our research focuses on the cause of rare recurrent HMs that have a biparentally inherited diploid genome (BiHM) but show generalized defects of imprinting.

Mutations in NLRP7 or KHDC3L have been found in women with BiHM pregnancies. We use mice and embryonic stem cell culture models to characterize the function of NLRP7 and its homolog Nlrp2 in reprogramming of imprinting.

In the third 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 following up on this observation. We are also studying in genetic mouse models for autism whether adverse prenatal exposures, such as inflammation, stress and certain medications (such as oxytocin and antidepressants) worsen the phenotype in offspring and by which mechanisms.

We also study Goltz Syndrome or Focal Dermal Hypoplasia (FDH) an X-linked disorder characterized by variable defects of skin and appendages, skeletal defects, primarily of hands, feet and long bones, as well as other anomalies such as omphalocele and urogenital defects. We found that this disorder is caused by mutations in the PORCN gene in Xp11.23 and have now generated a mouse model with a conditional null mutation in Porcn that we are characterizing. PORCN encodes the human homolog of Drosophila porcupine which is essential for secretion of Wnt and Wnt signaling.

Finally, I am also interested in the clinical application of new cytogenomic technologies for prenatal diagnosis and their role in non-invasive methods for prenatal diagnosis of fetal genetic disorders.

Selected Publications