Principal Investigators
Jennifer A. Wambach, MD
Associate Professor of Pediatrics, Newborn Medicine
Jennifer Wambach, MD is a clinically active neonatologist and has a longstanding interest in understanding the genetic causes of birth defects and extreme phenotypes in infants and children. Her research goals are (1) to use genomic sequencing technologies to identify the etiologies of birth defects and extreme phenotypes among infants and children and (2) to use functional studies to determine the disease mechanisms underlying these rare diseases. Specifically, this research laboratory focuses on the identification and functional characterization in cell-based systems for genetic disorders of surfactant metabolism which cause severe neonatal respiratory failure in term infants and childhood interstitial lung disease (chILD) in infants and children.
F. Sessions Cole, MD
Park J. White Professor of Pediatrics, Newborn Medicine
Professor of Cell Biology and Physiology
Executive Vice Chairman, Department of Pediatrics
Research interests include genetic regulation of neonatal pulmonary surfactant deficiency has been suggested by studies of gender, genetic linkage, recurrent familial cases, targeted gene ablation in murine lineages, and by racial disparity in risk of neonatal respiratory distress syndrome. Successful fetal-neonatal pulmonary transition requires production of the pulmonary surfactant, a phospholipid-protein film that lines alveoli and maintains alveolar patency at end expiration. Our goal is to understand the genetic mechanisms that disrupt pulmonary surfactant metabolism and cause neonatal respiratory distress syndrome.
Personnel
Daniel Wegner
Research Lab Manager
Daniel Wegner is involved in exome and genome sequencing analysis of babies with rare, extreme Mendelian phenotypes, both through the Washington University Undiagnosed Diseases Network (UDN) Clinical Site, as well as other Washington University genetics efforts. He also manages the research and bioinformatics efforts of the UDN clinical site. He is also involved in studying a specific ABCA3 mutation, c.3863-98C>T, and testing strategies for pharmacologic correction of this mutation in cell culture models.
Ping Yang
Research Specialist
Ping Yang is using a custom landing pad cell system to generate lung cell lines that stably express either wild type ABCA3 or individual ABCA3 mutations. She uses these cells for determining disease mechanism of ABCA3 mutations and screening of small molecules for pharmacologic correction of ABCA3 mutation-encoded disruption of lung function. Ping also assists with patient/family sample collection and storage for the UDN.
Mallory Leff
Undergraduate student
Mallory is studying a specific ABCA3 mutation, c.3863-98C>T, primarily seen in Colombia, South America, and is working to obtain an accurate population frequency of this mutation by genotyping bloodspots from a cohort of > 1000 infants from Medellin, Colombia.
Past personnel
Stephanie Attarian, MD
Current position: Neonatologist, Assistant Professor of Pediatrics, Monroe Carrell, Jr. Children’s Hospital at Vanderbilt, Nashville, Tennessee
Whitney Bour Eldridge, MD
Current position: Neonatologist, Pediatrix Medical Group, Tampa, Florida
Hillary Heins
Current position: Department of Genetics, Washington University
June Hu, MD
Current position: Neonatologist, Assistant Professor of Pediatrics, University of Texas Southwestern, Dallas, Texas
Yue Jiang, PA-C
Current position: Physician Assistant, MD Anderson Cancer Center, Houston, Texas
Sandra Leibel, MD, MSc
Current position: Neonatologist, Assistant Professor of Pediatrics, University of California San Diego, San Diego, California
Carol Liu Shen, MD
Current position: Pediatric Nephrology Fellow, Mount Sinai, New York, New York
Sophia Luna, BS
Current position: Medical Student, Stanford Medical School
Emily Merfeld, MD
Current position: Radiation Oncology Resident, University of Wisconsin, Madison, Wisconsin
Kristen Rosano, MD
Current position: Neonatal Perinatal Medicine Fellow, Rainbow Babies and Children’s Hospital, Cleveland, Ohio
Carla Sandler-Wilson, MD
Current position: Neonatologist, Mednax Medical Group, Nashville, Tennessee
Jessica Shapiro
Research Technician II
Jessica works as part of the Washington University Undiagnosed Diseases Network (UDN) Clinical Site. She analyzes genomic and RNAseq data from patients and their families, assists with patient/family sample collection and processing, and performs functional studies of individual variants/genes identified in case analyses to solve these challenging cases.
Katie Shields, MS
Current position: Genetic Counselor, McGovern Medical School at UTHealth, Houston, Texas
Jade Tam-Williams, MD
Current position: Pediatric Pulmonologist, Assistant Professor of Pediatrics, Children’s Mercy Hospital, Kansas City, Missouri