Of Note

Gavin Rumbaugh Awarded Grant Renewal to Study Genetic Defects Tied to Intellectual Development

Associate Professor Gavin Rumbaugh of the Florida campus of The Scripps Research Institute (TSRI) has been awarded a $1.9 million grant from the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH) to continue his team’s study of the links between single gene mutations and disruptions to neurons that can permanently mar intellectual development.

“The studies we’re undertaking seek to better understand how brain development is disrupted in patients with intellectual disability and associated psychiatric disorders,” he said. “The genetic mutations we study disrupt the rate of neuronal maturation in the developing brain and this change in maturation rate is linked with the onset of cognitive disability.”

The research, which the Rumbaugh lab first began in 2008, focuses on a critical synapse-regulating gene, known as SYNGAP1. Damaging mutations in this gene cause one of the most common non-inherited forms of intellectual disability and epilepsy.

With the new four-year grant (2R01NS064079), Rumbaugh’s aim is to target disruptive mutations to a relatively selective pool of neurons that are particularly sensitive to Syngap1 mutations as an entry point for determining just how genetic control of neuronal growth and maturation influences the formation of brain circuits that give rise to cognitive ability.

“These studies are expected to advance our neurobiological understanding of intellectual disability, though this next phase of research will also provide insight into very basic developmental processes related to brain wiring,” he said.

Send comments to: mikaono[at]scripps.edu

“The studies we’re undertaking seek to better understand how brain development is disrupted in patients with intellectual disability and associated psychiatric disorders,” says Associate Professor Gavin Rumbaugh, who has received a $1.9 million grant renewal. (Photo by James McEntee.)

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Of Note

Gavin Rumbaugh Awarded Grant Renewal to Study Genetic Defects Tied to Intellectual Development