Approaches: Molecular Genetics PRISM Electrophysiology Neuroanatomy in vivo Imaging Behavioral Analyses Bridging Mice and Men Our NF1 work Our  TSC work	Bridging mice and men In the last decade the work in our laboratory was focused on the molecular, cellular and circuit mechanisms of learning and memory. However, we have also studied animal models of genetic disorders affecting cognition. We are currently  translating our findings into clinical interventions. For example, Neurofibromatosis Type I (NF1) is an inherited disorder that affects cognitive function in 1/4500 people world-wide.  Based on our studies of the molecular and cellular mechanisms disrupted by Nf1 mutations in mice, we developed treatments that reverse the learning deficits of the Nf1 mutant mice. Similarly, we have been able to develop treatments that reverse the learning deficits associated with Tuberous Sclerosis (TSC) in mice. Now, we are involved in clinical trials to apply these findings to the treatment of learning disabilities in children with NF1 and TSC.
Mechanisms of human cognition In addition to studies designed to unravel new approaches to treat cognitive deficits associated with learning disabilities and other disorders, our laboratory is also carrying out parallel studies in mice and men to unravel the molecular and cellular mechanisms of human cognition. For example, recently we found that enhanced GABA-mediated inhibition accounts for the working memory deficits of an animal model of NF1. Consistent with the idea that enhanced GABA-mediated inhibition could also explain the working memory deficits in NF1 patients, functional imaging studies showed hypoactivation of prefrontal circuits in NF1 patients during a working memory task. We are collaborating with Tyrone Cannon, Carrie Bearden , Tena Rosner and Petrus J. de Vries on these studies.
Molecular Genetics   ·   PRISM   ·   Electrophysiology   ·   Neuroanatomy   ·   in vivo Imaging   ·   Behavioral Analyses   ·   Bridging Mice and Men