Research at the Vanderbilt Kennedy Center
Home of the Rett Syndrome Program
At the Vanderbilt Kennedy Center, over 200 researchers from every professional school in Vanderbilt University in over 25 fields of study drive basic science and clinical discovery in Rett syndrome and other intellectual and developmental disabilities. Read More
Developing ways to predict epilepsy onset and better manage clinical care
Cary Fu, M.D.
Dr. Fu is a pediatric neurologist whose research related to Rett syndrome focuses on characterizing biomarkers of epileptogenesis—the gradual process by which a typical brain develops epilepsy, contrasted to epilepsy, the chronic condition in which seizures occur. Read More
Understanding and treating sleep disorders in Rett syndrome and other neurodevelopmental disorders
Beth Malow, M.D., M.S.
Dr. Malow is a neurologist who studies the interrelationship of sleep and neurological disorders. She fosters multidisciplinary collaborations examining the relation of sleep and sleep disorders to a variety of neurological, medical, and psychiatric disorders, including Rett syndrome and other developmental disabilities, e.g., autism spectrum disorders, Down syndrome, Prader-Willi syndrome, and Williams syndrome. Read More
Investigating the epigenetics of Rett syndrome
Lisa Monteggia, Ph.D.
Dr. Monteggia, a neuroscientist, studies the role of Methyl-CpG-binding protein 2 (MeCP2), the gene linked to autism spectrum disorder in Rett syndrome, and its relation to synaptic plasticity (the ability of brain synapses to strengthen or weaken over time) and behavior. Her research encompasses molecular, cellular, behavioral, and electrophysiological approaches using mouse models.
Epigenetics refers to external, environmental modifications to DNA that turn genes “on” or “off.” These modifications do not change the DNA sequence, but instead affect how cells “read” genes. Read More
Using cellular and animal models to develop and test therapies
Jeffrey L. Neul, M.D., Ph.D.
Dr. Neul is a physician scientist who focuses on the clinical care, clinical research, and translational research for genetic neurodevelopmental disorders, with an emphasis on Rett syndrome.
Rett syndrome is typically caused by mutations in the epigenetic regulator MECP2 and robs affected individuals of their ability to speak and use their hands. The Neul Lab uses a combination of modern genetic, molecular, and physiological methods to characterize animal and cellular models of Rett syndrome and related disorders to develop an enhanced understanding of the pathophysiological basis and to develop and test novel therapies. Read More
Using animal models to develop therapeutic pharmaceutical targets
Colleen Niswender, Ph.D.
Most cases of Rett syndrome occur spontaneously from random mutations in the MECP2 gene, which results in disruptions in neurotransmission, including signals mediated by the excitatory transmitter glutamate. Niswender and colleagues in the Vanderbilt Center for Neuroscience Drug Discovery have used mouse models in which the MECP2 gene is “knocked out,” resulting in Rett syndrome-like symptoms. Read More
Defining and tracking clinical severity and assessing cognition and language
Sarika Peters, Ph.D.
Dr. Peters, a psychologist, examines the factors (e.g., genetic, immune, stress) that contribute to various degrees of severity in Rett syndrome and MECP2 duplication and is developing ways to assess higher-level cognition and social-emotional information processing. Read More
T
Althea Robinson Shelton, M.D., M.P.H.
Dr. Robinson Shelton, a neurologist, focuses on sleep problems in children with neurodevelopmental disorders (NDD). Many sleep disorders (e.g., obstructive sleep apnea, nocturnal seizures, restless legs) can lead to sleep fragmentation and thu, sleep deprivation. Sleep fragmentation contributes to a myriad of behavioral, neuropsychological, and cognitive problems. Children with NDD, already vulnerable to these problems, are even more at risk if they have a co-existing sleep disorder.