Ignatia B. Van den Veyver, MD

As a physician-scientist, my research includes translational and basic research on the molecular genetics and epigenetics of human developmental and reproductive disorders with the ultimate goal of improving the diagnosis and treatment for these conditions. Integrating clinical research with experiments in cell lines and mouse models, my lab studies maternal effect gene mutations that cause a range of health issues from infertility to pregnancy loss with multi-locus imprinting abnormalities, including molar pregnancies, and offspring with an array of birth defects.

We also do genetic research towards finding the cause of Aicardi syndrome, a rare neurodevelopmental disorder in girls that affects development of eyes and brain, causing severe seizures, and intellectual and developmental disability.

My clinical role as Director of Prenatal and Reproductive Genetics gives a unique perspective on my translational research that focuses on exploring novel methods for reproductive and prenatal genetic screening and testing, and the complexities of their integration into preconception and prenatal and perinatal care. I participated in the development and early implementation of chromosomal microarray analysis (CMA) for prenatal diagnosis and in the earliest studies on exome sequencing for prenatal diagnosis. I now serve as a co-PI on the large multicenter PrenatalSEQ study that evaluates different aspects of whole genome sequencing for prenatal diagnosis, including detection rates, outcomes, and psychosocial impacts of obtaining a genetic diagnosis using this new test. We are also studying new approaches for non-invasive screening for fetal chromosomal and single gene disorders, including development and validation of methods for non-invasive prenatal diagnosis using circulating fetal cells, cell-free DNA and other non-invasive markers of fetal health.

As an active translational research educator, I am passionate about mentoring the research of postdoctoral researchers, clinical fellows, junior faculty and graduate students. After being co-director for more than 10 years of a graduate program in translational research, I launched a new Clinical Translational Research Certificate of Added Qualification (CTR-CAQ) program that aims to integrate translational research training into the graduate school curriculum and is funded in part by a Ruth L. Kirschstein Institutional National Research Service Award (T32).

My roles as researcher, clinician and educator positively impact my leadership in the field of prenatal genetics. I served as president of the International Society for Prenatal Diagnosis (2016-2018), and I am currently an associate editor of Prenatal Diagnosis, and co-chair of the ClinGen Prenatal Gene Curation Expert Panel, focused on better understanding the gene variants impacting non-immune hydrops, other severe prenatal conditions, and stillbirth.