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Sarah Elsea, Ph.D., F.A.C.M.G.
Professor of Pediatrics
The work in Dr. Elsea's laboratory focuses on the molecular and biochemical analysis of Smith-Magenis syndrome (SMS). SMS is a multiple congenital anomalies/mental retardation syndrome associated with a deletion of chromosome 17p11.2. Features include mental retardation, speech delay, craniofacial and skeletal anomalies, sleep disturbance (including an inversion of the circadian rhythm of melatonin), self-abusive and aggressive behaviors, and a variety of other visceral anomalies. The lab recently identified a single gene from within 17p11.2, called RAI1 (retinoic acid induced 1), that when mutated causes Smith-Magenis syndrome. A number of other genes within 17p11.2 are considered candidates for minor features of the syndrome, including seizures, heart and kidney defects, and small stature. Studies in the lab are currently focused on the cell biology and biochemistry of RAI1, and other genes within 17p11.2 and mouse models are in development.
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