Daniel R. Weinberger – författare

The field of neuroimaging genetics has grown exponentially over the past decade. To date there are more than 10,000 published papers involving MRI, PET, MEG and genetics. Neuroimaging Genetics: Principles and Practices is the comprehensive volume edited by Drs. Bigos, Hariri, and Weinberger and co-authored by the preeminent scholars in the field. This text reviews the basic principles of neuroimaging techniques and their application to neuroimaging genetics. The work presented in this volume elaborates on the explosive interest from diverse research areas in psychiatry and neurology in the use of imaging genetics as a unique tool to establish and identify mechanisms of risk, establish biological significance, and extend statistical evidence of genetic associations. Examples throughout highlight the application of imaging genetics to understand neurochemical systems and pathways, explore relationships between genetics and the structural and functional connectivity in human brain, and provide insight into mechanisms of risk for psychiatric and neurologic illness.

N-acetylaspartate, or NAA, is the acetylated form of the amino acid aspartate, and it is present exclusively in the nervous system. Indeed, NAA is one of the most highly concentrated chemicals found in the brain of humans and animals, and yet the functions served by this brain-specific metabolite remain elusive, and controversial. Despite the uncertainties surrounding the functions of NAA in the development and operation of the nervous system, this molecule has attracted the attention of researchers and clinicians for two distinct reasons. First, the acetyl proton on NAA gives off a very prominent signal in water-suppressed, proton magnetic resonance spectroscopy (MRS), which permits clinicians to monitor levels of NAA in the brains of patients in a non-invasive manner. Because NAA is found primarily in neurons, and because the levels in the brain have been found to change rapidly after injury, or slowly during neurodegenerative diseases, MRS has become a preferred method of analyzing nerve cell dysfunction and death without surgical intervention. The second reason that NAA has attracted attention in recent years is that a congenital genetic disorder of NAA metabolism has been found to be the cause of the neurodegenerative disorder known as Canavan’s disease. Canavan’s disease is an inherited leukodystrophy that involves myelination pathologies of cortical white matter, leading to death within 10 years of birth. The genetic mutation results in a defective enzyme that de-acetylates NAA in the brain, resulting in a significant rise in NAA levels in the brain and urine. This enzyme, known as aspartoacylase (ASPA), appears to be involved in the process of myelination, such that a defective enzyme results in a disruption of the myelination of nerve fibers during development. The purpose of this symposium is to bring together investigators from around the world who are interested in the study of NAA, and the roles it plays in neuronaldevelopment and functioning. It is hoped that bringing researchers and clinicians together in such a forum will facilitate rapid progress in this emerging field, and will help lead to discoveries that can alleviate the suffering caused by a deadly, inheritable infantile disease.

Schizophrenia is one of the most complex and disabling diseases to affect mankind.   Relatively little is known about its nature and its origins, and available treatments are inadequate for most patients. As a result, there are inevitable controversies about what causes it, how to diagnose it, and how best to treat it.   However, in the past decade, there has been an explosion of new research, with dramatic discoveries involving genetic etiology and epidemiological risk factors.  There has also been a catalog of new drugs coming to market, and controversy about the relative advantages and disadvantages of newer compared with older therapies.   In addition, developing technologies in genomics, molecular biology and neuroimaging provide streams of new information. This book represents a definitive, essential, and up-to-date reference text on schizophrenia. It extensively and critically digests and clarifies recent advances and places them within a clinical context.  The Editors (one American and one British), highly respected clinical psychiatrists and researchers and acknowledged experts on schizophrenia, have again assembled an outstanding group of contributors from the USA, UK, Europe and Australia, It will be of value to practising psychiatrists and to trainees, as well as to clinical and neuroscience researchers interested in keeping up with this field or coming into it.The book consists of four sections:   descriptive aspects, biological aspects, physical treatments, and psychological and social aspects.   It reviews the theoretical controversies over symptomatology, classification and aetiology (particularly pertinent as DSM-V is being developed), the relationship of schizophrenia to the other psychoses, the significance of positive and negative symptoms and pre-morbid personality. It describes a variety of approaches to integrating the vast research data about schizophrenia, including neurodevelopmental, genetic, pharmacological, brain imaging and psychological findings. The biological treatment section reviews the comparative efficacy of various drugs, the management of drug-resistant patients and both neurological and metabolic complications. The final section looks at psychological therapies, social outcomes, and the economics of schizophrenia. Highly Commended in the Psychiatry section of the 2012 BMA Book Awards.