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Sarah H. Elsea, Ph.D., FACMG Professor, Dept. of Molecular and Human Genetics, Baylor College of Medicine Director of Clinical Genomics, BCM Human Genome Sequencing Center-Clinical Laboratory Senior Advisor, Clinical Genomics and Metabolomics, Baylor Genetics

21 Mar 2025
Biochemical Genetics
Sarah H. Elsea, Ph.D., FACMG Professor, Dept. of Molecular and Human Genetics, Baylor College of Medicine Director of Clinical Genomics, BCM Human Genome Sequencing Center-Clinical Laboratory Senior Advisor, Clinical Genomics and Metabolomics, Baylor Genetics
Dr. Sarah H. Elsea is'nationally and internationally recognized as an expert in neurodevelopmental and neurometabolic disorders. As the Director of Clinical Genomics for the BCM-HGSC Clinical Laboratory, she oversees clinical reporting for the CLIA laboratory including large-scale research population genome sequencing projects, undiagnosed rare disease programs,' ethical compliance, and integration of multi-omics data for diagnosis. Dr. Elsea's research program is focused on discovery, diagnosis, pathomechanisms, and treatment of rare disease across the lifespan, particularly neurodevelopmental, neurometabolic, and neurodegenerative disorders, from basic science to patient and family outcomes. Her clinical work at BCM is focused on development of clinical metabolomics, biomarker discovery, and approaches to treatment, as well as the utilization and integration of multi-omics technologies to develop and define model systems for investigation, treatment, and monitoring of rare and complex disease. Dr. Elsea is passionate about her work and currently serves as a board member of the American College of Medical Genetics & Genomics Foundation, and she serves as Chair of the PRISMS Professional Advisory Board for Smith-Magenis syndrome and on the board of the PTLS Hope Research Foundation. She is a member of several professional societies and has authored >150 scientific and lay articles.'
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