For my laboratory-based translational research we integrate human studies, human embryonic stem cell and mouse models to study how maternal effect gene mutations cause a range of adverse reproductive outcomes, including infertility, pregnancy loss with multi-locus imprinting abnormalities, and offspring with birth defects3,4. We also work on identifying and characterizing the genetic defects that cause X-linked dominant conditions. Specifically, we work on finding the cause of Aicardi syndrome, a severe neurodevelopmental disorder that affects girls.
This lab studies in mice and embryonic stem cell models how maternal effect mutations in genes that code for proteins of a complex that is essential for oocytes and embryos, cause multilocus imprinting defects that lead to recurrent pregnancy failure, early embryo arrest, and birth defects in offspring. We also conduct research on the cause of Aicardi syndrome, an elusive X-linked disorder, that affects primarily girls who have eye and brain abnormalities, severe seizures and intellectual disability.
For my clinical translational research, I investigate the benefits and challenges of introducing new genomic technologies, such as arrays, and non-invasive screening into prenatal diagnosis and care. We are conducting a multicenter NIH-funded study to evaluate the clinical and diagnostic utility of trio prenatal whole genome sequencing for pregnancies with complicated fetal structural congenital anomalies.