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Emily Groopman

Emily Groopman

National Human Genome Research Institute, National Institute
I am a resident physician in the Combined Pediatrics and Medical Genetics program at Children's National Medical Center (CNMC) and the National Institutes of Health (NIH) and a Biocurator for multiple Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) and Variant Expert Curation Panels (VCEPs). I graduated magna cum laude with Highest Honors in Human Evolutionary Biology from Harvard University and proceeded to pursue my M.D./Ph.D. from Columbia University College of Physicians and Surgeons; for my doctoral dissertation, I investigated the diagnostic utility of exome sequencing for kidney disease. My current research focuses on incorporating genetic and experimental data to develop systematic workflows for the diagnosis of inherited metabolic disorders across diverse clinical settings, including preconception carrier testing, newborn screening, and neurogenetics evaluation. I aim to become a physician-scientist in pediatrics and medical genetics, engaging in bench-to-bedside research that integrates multi-omics and clinical data to provide a molecular diagnosis and personalized care for individuals with rare genetic diseases and their families.
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