Dr. Sarah H. Elsea is a Professor of Molecular and Human Genetics and Director of Clinical Genomics for the BCM Human Genome Research Center at Baylor College of Medicine.
Dr. Elsea received a B.S. in chemistry with a minor in biology from Missouri State University and a Ph.D. in biochemistry from Vanderbilt University. She completed postdoctoral fellowships in human molecular and biochemical genetics at the Baylor College of Medicine and is a clinical biochemical geneticist certified by the American Board of Medical Genetics & Genomics. She started her research lab as an Assistant Professor at Michigan State University where she also directed a clinical diagnostic laboratory, and then continued her research at the Medical College of Virginia at Virginia Commonwealth University. She then returned to Baylor College of Medicine in 2013, where she co-developed clinical untargeted metabolomics at the BCM Medical Genetics Laboratories, now Baylor Genetics. As the Director of Clinical Genomics for the BCM-HGSC Clinical Laboratory, she oversees clinical reporting for All of Us and other large-scale genome sequencing projects.
Dr. Elsea’s research program is focused on discovery, diagnosis, pathomechanisms, and treatment of rare disease across the lifespan, particularly neurodevelopmental and neurometabolic disorders, from basic science to patient & 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 serves on the boards of the American Board of Medical Genetics & Genomics and the American College of Medical Genetics & Genomics Foundation, and she serves as Chair of the PRISMS Professional Advisory Board for Smith- Magenis syndrome. She is a member of several professional societies and has authored >150 scientific and lay articles.