Dr. Neeta Vora, associate professor of obstetrics and gynecology in the Division of Maternal-Fetal Medicine, and Dr. Erica Davis at the Duke University Center for Human Disease Modeling have been awarded an exploratory/developmental research grant (R21) from the National Center for Advancing Translational Sciences. Their research was initially funded by a $50,000 Duke/UNC-Chapel Hill CTSA Consortium Collaborative Translational Research Pilot Grant to model novel candidate genes in zebrafish to shed light on genes critical to human development.
After performing whole exome sequencing on cases with prenatally diagnosed brain abnormalities, Vora, Davis and their team analyzed the data to identify variants that are pathogenic or disease causing. Some of these variants are in genes without a known function in humans. Based on various criteria, genes potentially related to human brain development are chosen and modeled in the zebrafish using gene editing techniques. Zebrafish are the ideal animal model for this work because the zebrafish are translucent. This enables the embryos to be visualized during different stages of development and brain abnormalities to be identified. Zebrafish and humans also share 70 percent of the same genes. The zebrafish work is done at the Duke Center for Human Disease Modeling in the lab of Dr. Erica Davis and the sequencing is done here at the UNC High Throughput Sequencing Facility.
Vora’s research and clinical practice focuses on improving the ability to make a prenatal diagnosis in pregnancies affected by a congenital abnormality. With funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), she and her team perform prenatal whole exome sequencing, and she is also a primary investigator for a multicenter trial to study the use of whole genome sequencing prenatally in cases of fetal abnormalities.
As director of UNC Reproductive Genetics Services, Vora leads a team of six prenatal genetic counselors in the Department of Obstetrics and Gynecology. Kelly Gilmore, Certified Genetic Counselor, is the study coordinator for the various prenatal research projects and provides pre- and post-test counseling to families having sequencing. Karen Dorman, Director of Perinatal Research, and research assistant, Amber Ivins, have also been integral in helping Vora with her research program since she was recruited from Boston in 2012.
The pilot program that originally funded this work at NC TraCS is designed to encourage and facilitate novel clinical and translational research that applies or accelerates discovery into testing in clinical or population settings. Cross-disciplinary basic research addressing the development of therapies, diagnostics or devices applicable to human disease and clinical research/trials are areas of interest for these awards.