Biomedical Research Education & Training
Faculty Member

Ess, Kevin C., M.D., Ph.D.
Director, Division of Pediatric Neurology
Associate Professor of Pediatrics
Assistant Professor of Cell and Developmental Biology

Lab Url: http://kc.vanderbilt.edu/ess/

Phone Number: (615) 936-4113

Email Address: kevin.ess@vanderbilt.edu

Ess, Kevin's picture
Academic history
M.D., University of Cinncinnati College of Medicine
Ph.D., University of Cincinnati
B.M., University of Cincinnati

Office Address   Mailing Address

6158 MRB III

MRBIII, Suite 6158 37232-8552


Research Keywords
cortical development, stem cells, epilepsy, autism, tuberous sclerosis

Research Description
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 and zebrafish as well as in vitro progenitor cell systems including patient-derived induced pluripotent stem cells (iPSCs). The ability to manipulate Tsc1 or Tsc2 gene expression in mouse or human 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
Carson R, Van Nielen D, Winzenburger P and Ess, K . Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin. . Neurobiology of Disease, In Press

Kim, SH, Speirs, CK, Solnica-Krezel, L, Ess, KC. Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin. Dis Model Mech, 4(2), 255-67, 2011 PMCID:3046101

Ess, KC. Tuberous sclerosis complex: a brave new world. Curr Opin Neurol, 23(2), 189-93, 2010 PMCID:2884012

Ess, KC. Treatment of infantile spasms in tuberous sclerosis complex: dismal outcomes but future hope. Nat Clin Pract Neurol, 5(2), 72-3, 2009

Ess, KC. Tuberous sclerosis complex: everything old is new again. J Neurodev Disord, 1(2), 141-9, 2009 PMCID:2884012

Zeng, LH, Ouyang, Y, Gazit, V, Cirrito, JR, Jansen, LA, Ess, KC, Yamada, KA, Wozniak, DF, Holtzman, DM, Gutmann, DH, Wong, M. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiol Dis, 28(2), 184-96, 2007 PMCID:2117357

Ess, KC. The neurobiology of tuberous sclerosis complex. Semin Pediatr Neurol, 13(1), 37-42, 2006

Ess, KC, Kamp, CA, Tu, BP, Gutmann, DH. Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. Neurology, 64(8), 1446-9, 2005

Ess, KC, Uhlmann, EJ, Li, W, Li, H, Declue, JE, Crino, PB, Gutmann, DH. Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology. Glia, 46(1), 28-40, 2004

Wong, M, Ess, KC, Uhlmann, EJ, Jansen, LA, Li, W, Crino, PB, Mennerick, S, Yamada, KA, Gutmann, DH. Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model. Ann Neurol, 54(2), 251-6, 2003

Wong, M, Ess, K, Landt, M. Cerebrospinal fluid neuron-specific enolase following seizures in children: role of etiology. J 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

Ess, K, Chen, H, Kier, A, Brackenbury, R. Suppression of tumorigenicity, but not invasion, in glioblastoma/HeLa cell hybrids. J Cell Physiol, 162(3), 341-7, 1995

Ess, KC, Whitaker, TL, Cost, GJ, Witte, DP, Hutton, JJ, Aronow, BJ. A central role for a single c-Myb binding site in a thymic locus control region. Mol Cell Biol, 15(10), 5707-15, 1995 PMCID:230821

Hutton, JJ, Ess, KC, Witte, DP, Aronow, BJ. Winner of the Theodore E. Woodward Award: c-Myb and the coordinate regulation of thymic genes. Trans Am Clin Climatol Assoc, 107, 115-24, 1995 PMCID:2376566

Ess, KC, Hutton, JJ, Aronow, BJ. Double-stranded phosphorothioate oligonucleotide modulation of gene expression. Ann N Y Acad Sci, 716, 321-3, 1994


Postdoctoral Position Available
No

Postdoctoral Position Details
N/A

Updated Date
08/24/2011