Presentation Title: Using animal models to understand UCD

Presentation Title: Cellular models for UCD research

Presentation Title: A multiplexed approach to understanding variant impact in UCD

Presentation Title: The urea cycle beyond ureagenesis 

Presentation Title: Metabolic management versus whole liver or stem cell transplantation 

Presentation Titles: The Journey to the Current UCD Landscape and Brain imaging as a prognostic biomarker for UCD

Dr. Andrea Gropman is a pediatric neurogeneticist and neurometabolic specialist. She received her M.D. from the University of Massachusetts School of Medicine, completed a residency in Pediatrics at Johns Hopkins Hospital in Baltimore, MD and subsequent fellowships in neurology/child neurology at George Washington University and Children’s National Hospital, Washington, D.C., clinical and biochemical genetics at the National Institutes of Health, and a mini fellowship in neuroimaging and magnetic resonance spectroscopy at the Huntington Medical Research Institute in Pasadena, CA. She is board certified in neurology/child neurology, genetics, biochemical genetics and neurodevelopmental disabilities. She served as Professor of Pediatrics, Neurology, Genomics and Personalized Medicine at George Washington University for the past 25 years and served as the division chief for Neurogenetics and Neurodevelopmental disabilities from 2014-2024 and the interim director of genetic medicine research from July 2023-September 2024. Dr. Gropman also is the PI for the Urea Cycle Rare Disorders Consortium and serves leadership roles on the RDCRN and in genetic, metabolic and neurology societies.  She is currently the Director of Neurometabolic Translational Research, in the center for experimental therapeutics at St. Jude Children’s Research Hospital. She has published 300 research articles and reviews and contributed 12  chapters to classic textbooks in genetics and neurology is one of the editors of the classic textbook, Swaiman’s Pediatric Neurology. Dr. Gropman is coauthor of the textbook, X and Y chromosome Variations. She has lectured extensively and been an invited speaker at dozens of conferences and symposia both nationally and internationally. Dr. Gropman's research has focused on several areas including inborn errors of metabolism, in which she is considered an international authority on neuroimaging and brain biomarkers in urea cycle disorders, mitochondrial epigenomics, and chromosome disorders including Smith Magenis syndrome and X and Y chromosome disorders. She is a gracious mentor for the next generation of physicians and researchers in rare disease. Dr. Gropman has dedicated her career to the care of children and adults with rare disease. 

Presentation Title: RNA-based therapies for UCD: An update

Presentation Title: Diagnostic and clinical trial applications of In vivo ureagenesis measurement

Presentation Title: Gene therapies for UCD: From historical perspectives to future prospects

Presentation Title: Newborn screening for UCD: Benefits and limitations

Presentation Title: An East-West comparison of UCD dietary management

Presentation Title: Current progress and challenges in gene editing for UCD

Presentation Title: Utilizing neglected data: Opportunities in machine learning-supported newborn screening

Presentation Title: Proteomic approach to screening for proximal UCDs

Presentation Titles: The journey to the current UCD landscape, Innovative therapies: Patients‘ expectations and Innovative therapies: outcomes

Presentation Title: Unraveling the neuropsychological complexity of UCD

Presentation Titles: Innovative therapies: patients‘ expectations and Innovative therapies: outcomes

Presentation Title: Early prediction of disease severity: a tool for precision medicine in UCD