Marilyn M. Li, MD

Marilyn M. Li is a Professor of Pathology and Laboratory Medicine, Professor of Pediatrics, Vice Chief of the Division of Genomic Diagnostics, Director of Cancer Genomic Diagnostics at Children’s Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine. Dr. Li holds American Board of Medical Genetics certification in Clinical Cytogenetics and Clinical Molecular Genetics. Prior to her appointment at CHOP, she served as the director of Cancer Genetics Laboratory, Baylor College of Medicine, the director of the Tulane Clinical Cytogenetics Laboratory, Clinical Molecular Genetics Laboratory, Tulane Matrix DNA Diagnostic Laboratory, and the director of the Genomics Core Laboratory of Louisiana Cancer Research Consortium. She is a fellow of AMP, ACMG, ASHG, SWOG, ASH, and ASCO. Dr. Li’s primary research interest is clinical application of microarray and next generation sequencing technologies in cancer research and clinical diagnosis. Her group has studied thousands of cancer genomes using custom-designed cancer-specific arrays, and next generation sequencing panels, and cancer exomes. Their experience demonstrated that these state of the art technologies detect genomic alterations that can be used for cancer diagnosis, risk stratification, disease follow-up, and therapeutic selection. She initiated, organized and is the first president of the Cancer Genomics Consortium, an international consortium whose mission is to facilitate the development and utilization of microarray-based technology and NGS technology for high quality, reliable cancer genetic testing in diagnostic laboratories. She is the recipient of the 2010-2011 Luminex/ACMGF Award for the promotion of safe and effective genetic testing and services. Other research projects in her lab include studies of common leukemia- and lymphoma-associated genetic aberrations in healthy individuals and mosaic overgrowth syndromes and chromosome microdeletion syndromes. She is an active member of the medical school and is involved in teaching medical students and Ph.D. students, and training residents and fellows.

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