Department of Psychiatry

Penn Behavioral Health

Diseases/Disorders

Addiction

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Aging

Alzheimer's Disease and Dementia

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Anxiety Disorders

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Autism Spectrum Disorders

Bipolar Disorder

Eating Disorders - Obesity, Anorexia, Bulimia

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Epilepsy

Epilepsy is a heterogeneous brain disease that may be best regarded as a group of related diseases and/or disorders that share one fundamental characteristic, that is, the occurrence of spontaneous seizures. Together, the various forms of epilepsy represent one of the most common brain dysfunctions in humans with estimates in the general population defining the frequency at around 1 in 100 individuals. From an etiological perspective, the epilepsies are viewed as a multifactorial group of illnesses in that they arise due to a combination of environmental and genetic factors. Thus, in order to elucidate the pathogenesis of recurrent seizures in epilepsy, research efforts must address both the underlying biological and genetic substrates of susceptibility as well as the environmental signals that trigger seizures.

CNB investigators are involved in epilepsy research on several levels consistent with the mission of the Center to foster inter-disciplinary neurobiological research that emphasizes clinically-relevant basic science studies. Multiple approaches to the study of epilepsy are utilized by researchers in the CNB including the development and analysis of animal models in which molecular mechanisms may be evaluated and hypotheses tested. Direct translation of primary laboratory research on models of human epilepsy into clinical studies involving epilepsy patients is also an important aspect of CNB efforts in epilepsy research. Overall, CNB research programs in epilepsy support an integrated and comprehensive systems approach to better understand the nature of this group of diseases and to promote the development of new treatments.

Information for families and further information about research in the epilepsies can be found on the website of the American Epilepsy Society (http://www.aesnet.org/).

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Parkinson's Disease

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Rett Syndrome

Rett syndrome is a complex neuropsychiatric disorder characterized by motor disturbances, mental retardation, and epilepsy, as well as developmental regression and the appearance of autistic features. X-linked, Rett syndrome almost exclusively affects girls and in nearly all cases arises from a mutation in the gene MeCP2. The disorder’s broad nature is likely due to the fact that MeCP2 acts in part as a transcriptional repressor that binds to methylated CpG islands on DNA. Bound to DNA, MeCP2 can recruit histone-deacetylase (HDAC) to modify chromatin structure, blocking transcription. MeCP2 has also been shown to bind to other genomic sites as well as to microRNA, suggesting other modes of action. Studying Rett syndrome is strongly clinically relevant, in that 1:10,000 girls and their families are effected by this developmental disorder. Scientifically, Rett syndrome is a particularly interesting neuropsychiatry disease: it has a clear epigenetic etiology, affecting a number of important genes implicated in learning and memory, neuronal development, schizophrenia, autism, epilepsy, and depression. Therefore, as well as focusing on clinically important disease, work in models of Rett syndrome cuts across many more common neuropsychiatry disorders. This work also implicates basic neuroscience questions that query the role of epigenetic modifications in development, imprinting, and neuronal morphology and connectivity, as well as in learning and memory.

Information for families and further information about research in Rett syndrome can be found at the International Rett Syndrome Foundation (IRSF: http://www.rettsyndrome.org/). IRSF is a generous supporter of Rett syndrome research at the CNB.


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Sleep Disorders

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Social Phobia

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