Study pinpoints genes underlying birth defects
The award described below is a continuation and expansion of a project that began with an NC TraCS pilot award ($50,000 Duke/UNC-Chapel Hill CTSA Consortium Collaborative Translational Research Pilot Grant) for Genetic and Functional Dissection of Congenital Anomalies of the Kidney and Urinary Tract. Vora and Davis then received an R21 grant from NCATS for Genetic and Functional Dissection of Congenital Anomalies of the Brain.
Vora awarded $3.4 million for identification of genes critical to human brain development
Neeta L. Vora, MD, Associate Professor and Director of Reproductive Genetics in the Department of Obstetrics & Gynecology, has been awarded $3.4 million for a Research Project Grant (R01) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) toward studying the identification of genes critical to human brain development with validation in a zebrafish model.
Neeta L. Vora, MD, a Maternal Fetal Medicine-Geneticist from the Department of Obstetrics and Gynecology, has been awarded a Research Project Grant (R01) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) toward studying the identification of genes critical to human brain development with validation in a zebrafish model. The grant, funded at $3.4 million, was submitted through the UNC Center for Women's Health Research in October, 2020.
Fetal brain abnormalities (FBA) are one of the most common prenatal sonographic abnormalities detected and account for approximately 20 percent of birth defects, posing a substantial burden on the health care system.
The project proposed by Dr. Vora will identify genes critical to human brain development by applying exome sequencing in pregnancies with FBA. Novel candidate genes will then be targeted in zebrafish using gene editing technology (CRISPR). This work will shed light on the molecular underpinnings of human brain development to improve the diagnosis, prevention, and treatment of FBA, leading to novel preventive and therapeutic strategies that can be applied in the perinatal period.
"The work is significant because understanding the etiology of fetal brain abnormalities will inform parents regarding recurrence risk in future pregnancies as well as inform care in the newborn period which has the potential to improve neonatal outcomes," says Vora.
Dr. Vora is triple boarded in Obstetrics and Gynecology, Maternal Fetal Medicine, and Clinical Genetics. She completed her residency and fellowship at Tufts Medical Center in Boston, MA, and joined UNC OB-GYN's Division of Maternal-Fetal Medicine in 2012. She is now an associate professor and serves as the Director of Reproductive Genetics at UNC where she supervises six prenatal genetic counselors.
She has authored more than 55 articles on prenatal genetics, ranging from cell free DNA to whole exome and genome sequencing. She had a K23 from the NICHD to study use of new genomic technologies in obstetrics and has an R21 to study novel genes critical to human brain development in a zebrafish model. She is a co-investigator on both a multicenter prenatal whole genome sequencing grant and a grant on how parents prepare for a prenatal diagnosis of a genetic condition.
Her research team includes, but is not limited to, Kelly Gilmore (study coordinator and prenatal genetic counselor), Karen Dorman (Director of Perinatal Research), Amber Ivins (research assistant), and Erica Davis (zebrafish collaborator at Northwestern). Dr. Vora is grateful to the MFM division for their support, the Center for Women's Health Research, the NICHD, and NC TraCS and the Program for Precision Medicine in Health.
For more information on Dr. Vora's research, publications, and lab team, visit her research website.
Originally posted at news.unchealthcare.org
