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Kevin Ess, M.D., Ph.D.

Doris Duke Foundation lauds Essí research

BY: LEIGH MACMILLAN

9/25/2009 - Kevin Ess, M.D., Ph.D., has received a 2009 Clinical Scientist Development Award from the Doris Duke Charitable Foundation. Ess is one of 14 physician-scientists in the country to receive the three-year, $405,000 award.

“The Doris Duke award is an important career award that will allow me to accelerate my research program,” said Ess, assistant professor of Neurology, Pediatrics and Cell & Developmental Biology.

“With this award, we will be able to expand a new and tremendously exciting research advance — the use of induced pluripotent stem cells to study human disease.”

Induced pluripotent stem cell (iPSC) technology provides a way to convert skin cells to stem cells, which can become any of the body's many cell types.

Ess' research focuses on the genetics of brain development and how disruptions during embryonic development lead to brain malformations that are associated with epilepsy and autism.

He and his colleagues study a disease called tuberous sclerosis complex (TSC) as a model for exploring the molecular mechanisms that guide brain development.

TSC, which affects about 1 in 6000 people in the United States, is caused by the loss of either the TSC1 or TSC2 genes. Most patients have brain malformations called tubers, and the disease is one of the most common genetic causes of seizures and autism in children.

Studies using mouse models have begun to define the role of the TSC genes during brain development. Ess and his colleagues will now use iPSC technology to convert skin cells from patients with TSC (Ess directs the Vanderbilt TSC Clinic) into patient-specific iPSCs. By studying neurons and other cell types derived from these cells, Ess hopes to better understand the underlying causes of TSC.

“Using stem cells derived from our well-defined TSC patient population should provide insights to brain development and the pathogenesis of epilepsy and autism,” Ess said.

“And we expect that patient-derived iPSCs will aid the discovery of new therapies for children with neurological disorders.”

Ess and his collaborator Aaron Bowman, Ph.D., assistant professor of Neurology, have been developing iPSC technology at Vanderbilt over the past two years.

Grants from the Vanderbilt Institute for Clinical and Translational Research, a Hazinski-Turner award from the Department of Pediatrics, and a Hobbs award from the Kennedy Center were instrumental in establishing this technology, Ess said.

“The consensus is that this technology is going to be a terrific tool,” he added. “The Doris Duke award will allow me to push that part of my research further. Also, we are particularly excited to help disseminate this technology through ongoing collaborations with other scientists at Vanderbilt.”

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