KEVIN ESS, M.D., Ph.D.

Biographical Sketch

Dr. Ess graduated from the University of Cincinnati with a B.M. in Music Performance in 1989. He then earned a PhD in Developmental Biology (1996) and a M.D. degree (1998) from the University of Cincinnati. After an internship in Pediatrics at Denver Children’s Hospital, then became a Pediatric Neurology Resident at Washington University in St. Louis. Dr. Ess then completed fellowship training in Pediatric Neurophysiology at Washington University as well as post-doctoral research in Dr. David Gutmann’s laboratory. He was an Instructor of Neurology and Pediatrics at Washington University in St. Louis from 2004-2006.

Dr. Ess joined the faculty at Vanderbilt University Medical Center in 2006 as an Assistant Professor for the Departments of Neurology and Pediatrics. He is also a member of the John F. Kennedy Center for Research on Human Development. His research interests are on mechanisms of normal cortical development and how genetic aberrations result in brain malformations, epilepsy, and autism. His clinical activities focus on the management of intractable epilepsy in children. This includes medical therapies as well as diet and surgical management. He has a special interest in the diagnosis and treatment of the genetic disorder Tuberous Sclerosis Complex. While at Washington University, he founded a Tuberous Sclerosis Clinic in 2002 and is also establishing a comprehensive clinic at Vanderbilt Children’s Hospital as well.

Research Summary

Research in my laboratory is focused on deciphering the molecular mechanisms required for normal brain development and how disruptions of these processes lead to malformations of the cerebral cortex. Children with such aberrations typically suffer from severe seizure disorders (epilepsy) as well as severe cognitive and behavioral problems such as autism. To approach these complex neurologic disorders, we have been studying tuberous sclerosis complex (TSC), a disease that prominently features cortical malformations and is caused by loss of either the TSC1 or TSC2 genes. TSC is quite prevalent and is the most common genetic cause of seizures and autism in children. Our previous investigations led us to hypothesize that the TSC1/2 genes are essential for neural progenitor cell function able to impact the differentiation and migration of neurons and glia. Abnormalities of these developmental processes may cause the cortical malformations in TSC that underlie epilepsy as well as autism in these patients. To study these complicated abnormalities of the human brain, we have generated experimental models of TSC using genetically engineered mice as well as in vitro progenitor cell systems. The ability to manipulate Tsc1 or Tsc2 gene expression in mouse progenitor cells allows us to determine the role of these genes during neuronal and glial cell specification, differentiation, and migration. Our long term goal is to use these models to precisely define the molecular pathways used by the TSC1/2 genes during human brain development. This knowledge will facilitate the development of rational and hopefully more efficacious therapies for children who suffer from epilepsy or autism.

Publications:

Ess KC. The Neurobiology of Tuberous Sclerosis Complex. Seminars in Pediatric Neurology. (2006, In Press).

Ess K, Camp K, Tu B, Gutmann D. Developmental Origin of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. Neurology 64, 1446-1449, 2005.

Ess K, Uhlmann E, Li W, Hongzhen L, DeClue J, Crino P, Gutmann D. Expression Profiling in Tuberous Sclerosis Complex (TSC) Knockout Mouse Astrocytes to Characterize Human TSC Brain Pathology. Glia 46 28-40 2004.

Wong M, Ess K, Uhlmann E, Jansen L, Li W, Phelan C, Crino P, Mennerick P, Yamada K, Gutmann D. Astrocyte-Specific Tsc1 Inactivation Leads to Impaired Glutamate Transport in a Mouse Epilepsy Model of Tuberous Sclerosis Complex. Annals of Neurology 54 251-56, 2003

Wong M, Ess K, Landt M. Cerebrospinal fluid neuron-specific enolase following seizures in children: role of etiology. Jrl.Child Neurol. 17(4):261-4, 2002.

Ess KC. Witte DP. Bascomb CP. Aronow BJ. Diverse developing mouse lineages exhibit high-level c-Myb expression in immature cells and loss of expression upon differentiation. Oncogene. 18(4):1103-11, 1999.

Hutton JJ. Ess KC. Witte DP. Aronow BJ. c-Myb and the coordinate regulation of thymic genes. Transactions of the American Clinical & Climatological Association. 107:115-24, 1995.

Contact Information

Kevin Ess M.D., Ph.D.
Assistant Professor of Neurology
Vanderbilt University
MRBIII, Room 6158
465 21st Ave
Nashville, TN 37232-8552

Phone: 615-936-0060
Fax: 615-936-0223