This year’s meeting of the International Society for Prenatal Diagnosis (ISPD) in Berlin was a significant one for Mother Infant Research Institute (MIRI) Researchers.
Faycal Guedj, PhD, a Senior Research Associate received the ISPD’s prestigious Joe Leigh Simpson Award for Best Early Career Investigator. This Award was previously named the ISPD Young Scientist Award, and renamed to honor Joe Leigh Simpson, the Founding President of ISPD.
Dr. Guedj is a part of an interdisciplinary team working together to develop a safe and efficacious prenatal therapy for Down syndrome (DS) using a novel systems biology approach based on fetal gene expression in mouse and human cells and tissue. Dr. Guedj and his colleagues identified consistent abnormalities in several cellular processes and signaling pathways in both humans and mice. To screen for FDA-approved drugs that can counteract these abnormalities, Dr. Guedj and colleagues used the publicly available Connectivity Map database and selected 17 drugs to study further. Dr. Guedj and the MIRI team recently completed a comprehensive longitudinal study using one of these drugs, apigenin, which is an antioxidant present in green leafy vegetables and citrus fruits that has been reported to cross the brain blood barrier and improve the growth of new nerve cells in adult mice. They have demonstrated that apigenin treatment results in a significant reduction of oxidative stress in human cells and improvement of behavior and learning in mice models of DS. Drs. Bianchi, Guedj and colleagues are investigating the effects of the other 16 high priority candidate drugs with newly received funding from the Sie Foundation in Denver, Colorado. The long-term goal of this project is to offer pregnant women a safe treatment at the time of prenatal diagnosis to potentially improve brain development and infant learning.
MIRI Principal Investigator Tomo Tarui, MD presented his team’s work “Amniotic fluid transcriptomic changes in fetuses with myelomeningocele” in the top abstracts plenary session. The presentation was selected as one of the “Top Five Abstracts” of the meeting.
Myelomeningocele is a disease of the spinal cord and brain, in which affected children are born with exposed spinal cord tissue at the back that lacks protection of overlying bone and skin. The disease originates in the first two weeks of embryonic life and is considered to get worse during the pregnancy. Depending on its severity, the disease may cause lifelong motor problems and incontinence in affected children. At this time, fetal surgery is offered to those fetuses whose motor function may improve as a result.
Dr. Tarui’s team has reported new genes and molecular pathways to explain the disease mechanism by analyzing amniotic fluid samples collected at the time of fetal surgery. The study is ongoing to collect more samples during surgery and at birth. The aim of the study is to explore possible fetal drug therapy that may help both those fetuses who undergo surgery and those who are not eligible for surgery.
MIRI alumna (2010-2012) Lisa Hui, MBBS PhD, Mercy Hospital for Women, Melbourne, Australia, gave an oral presentation in the late-breaking abstract plenary session entitled “Detection rates of high grade serous ovarian cancers using a clinical non-invasive prenatal testing platform: potential for ovarian cancer screening.”
This study investigated the performance of a clinical noninvasive prenatal testing (NIPT) platform for the detection of early and late stage high grade serous ovarian carcinomas in a non- pregnant population. Dr. Hui’s team showed that low coverage plasma DNA sequencing as used for NIPT could detect abnormalities in the plasma of 41% of women with ovarian cancer.
Dr. Hui’s research interests are in prenatal screening and diagnosis and the clinical applications of cell-free fetal nucleic acids in perinatal medicine.
Joining the MIRI presenters at the conference was Executive Director Diana Bianchi, MD, who gave three presentations this year: “NIPT using cell-free DNA beyond aneuploidy: what should we be doing?”; “How to get published”; and “Prenatal Diagnosis Journal Update.” Since 2007, Dr. Bianchi has served as the Editor-in-Chief of Prenatal Diagnosis, the official Journal of ISPD. Dr. Bianchi’s translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive prenatal DNA screening and diagnosis, and interrogating the fetal transcriptome to develop new therapies for genetic disorders that can be instituted prenatally. Dr. Bianchi has published over 290 peer-reviewed articles, and is one of four authors of the book “Fetology: Diagnosis and Management of the Fetal Patient.”
“It’s an enormous honor to share the podium with my colleagues from MIRI, who have contributed so much to our work in prenatal diagnosis,” Dr. Bianchi commented.