Sarah H. Elsea

Baylor College of Medicine, USA


Sarah H. Elsea is an Associate Professor of Molecular and Human Genetics and Director of the Biochemical Genetics Laboratory at Baylor College of Medicine, Tex, USA. She received a B.S. degree in chemistry from Missouri State University, Springfield, Mo, USA, a Ph.D. degree in biochemistry at Vanderbilt University School of Medicine, TN, USA, and completed postdoctoral training in human molecular and clinical biochemical genetics at Baylor College of Medicine. She is board certified in clinical biochemical genetics by the American Board of Medical Genetics. Her research is focused primarily on the molecular and phenotypic characterization of genomic disorders, particularly Smith-Magenis syndrome (SMS), a complex genetic disorder that involves developmental delays, behavioral problems, sleep disturbance, obesity, self-abusive and aggressive behaviors, and visceral and skeletal anomalies. Utilizing classical genetics procedures and FISH, her research group delineated the genomic region encompassing the common 17p11.2 deletion associated with SMS and mapped the genes deleted in the disorder and subsequently identified retinoic acid induced 1 (RAI1) as the causative gene. Her lab has characterized dosage-sensitivity of the RAI1 gene using mouse models, with current research now focused on the effects of RAI1 on molecular and functional pathways, particularly in obesity and behavior, and identification of other possible loci 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 caring for individuals with SMS. Her research has been funded by the NIH, Jerome Lejeune Foundation, France; Michigan State University Foundation, USA, A.D. Williams Foundation, USA, Smith-Magenis Research Foundation, USA, and Jeffress Trust, USA. She authored over 60 peer-reviewed scientific publications, reviews, and book chapters.

Biography Updated on 23 June 2013

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