Sarah H. Elsea

Sarah H. Elsea is an Associate Professor of pediatrics and human & molecular genetics at Virginia Commonwealth University School of Medicine, Va, USA. She received a B.S. degree in chemistry from Missouri State University, Mo, USA and a Ph.D. degree in biochemistry at Vanderbilt University School of Medicine, Tenn, USA. She then completed postdoctoral training in human molecular genetics and clinical biochemical genetics at Baylor College of Medicine, Tex, USA. She is board certified in clinical biochemical genetics by the American Board of Medical Genetics. Elsea research is focused primarily on the molecular and phenotypic characterization of genomic disorders, particularly Smith-Magenis syndrome (SMS). SMS is a complex genetic disorder that involves developmental delays, behavioral problems, sleep disturbance, obesity, self-abusive and aggressive behaviors, and visceral and skeletal anomalies. It is associated with a small deletion involving chromosome 17p11.2. Utilizing classical genetics procedures and FISH, her research group delineated the genomic region encompassing the 17p11.2 deletion and mapped the genes deleted in the disorder and subsequently identified retinoic acid induced 1 (RAI1) as the causative gene for SMS. Her lab has successfully characterized dosage-sensitivity of the RAI1 gene using mouse models, with current research now focused on potential effects of RAI1 on other molecular and functional pathways, particularly in obesity and behavior, and identification of another possible locus for SMS. While most of the work in Elsea's lab has a molecular basis, her work with the children and families living with SMS has focused some recent studies on the effects that caregivers, typically mothers, experience due to caring for individuals with SMS. Her research has been funded by the NIH, Jerome Lejeune Foundation,France; Michigan State University Foundation Mich, USA, A.D. Williams Foundation, Va, USA, and Jeffress Trust, Va, USA. She authored over 50 peer-reviewed scientific publications, reviews, and book chapters.

Biography Updated on 16 April 2009

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