The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

The work described in this book was first presented at the Second Workshop on Genetic Programming, Theory and Practice, organized by the Center for the Study of Complex Systems at the University of Michigan, Ann Arbor, 13-15 May 2004. The goal of this workshop series is to promote the exchange of research results and ideas between those who focus on Genetic Programming (GP) theory and those who focus on the application of GP to various re- world problems. In order to facilitate these interactions, the number of talks and participants was small and the time for discussion was large. Further, participants were asked to review each other's chapters before the workshop. Those reviewer comments, as well as discussion at the workshop, are reflected in the chapters presented in this book. Additional information about the workshop, addendums to chapters, and a site for continuing discussions by participants and by others can be found at http://cscs.umich.edu:8000/GPTP-20041. We thank all the workshop participants for making the workshop an exciting and productive three days. In particular we thank all the authors, without whose hard work and creative talents, neither the workshop nor the book would be possible. We also thank our keynote speakers Lawrence ("Dave") Davis of NuTech Solutions, Inc., Jordan Pollack of Brandeis University, and Richard Lenski of Michigan State University, who delivered three thought-provoking speeches that inspired a great deal of discussion among the participants.

Metabolic syndrome (MetS) is a set of co-morbidities that collectively increase an individual’s risk of developing cardiovascular disease, stroke, and type 2 diabetes mellitus (T2D). Per the World Health Organization (WHO), MetS is typically characterized by obesity, insulin resistance, hypertension, and hyperlipidemia. Building on this point, some of the major risk factors for development of MetS include increased weight or an obese phenotype, lack of physical activity, and genetics. Interestingly, the last decade has witnessed a deluge of Genome-Wide Association Studies (GWAS) that have linked hundreds of genomic with both collective MetS traits, as well as individual metabolic disorders sitting within it. Currently, in the post-GWAS era, the focus has shifted to characterization of these novel genomic to establish causality and disease relevance. This is being pursued by way of functional validation such as gain- and loss-of-function studies, investigating resulting metabolic phenotypes, mechanisms and pathways underlying these phenotypes, their prevalence and potential for risk stratification across populations, and finally, identification of therapeutic targets for pharmacological intervention.

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Genetic Programming Theory and Practice explores the emerging interaction between theory and practice in the cutting-edge, machine learning method of Genetic Programming (GP). The material contained in this contributed volume was developed from a workshop at the University of Michigan's Center for the Study of Complex Systems where an international group of genetic programming theorists and practitioners met to examine how GP theory informs practice and how GP practice impacts GP theory. The contributions cover the full spectrum of this relationship and are written by leading GP theorists from major universities, as well as active practitioners from leading industries and businesses. Chapters include such topics as John Koza's development of human-competitive electronic circuit designs; David Goldberg's application of "competent GA" methodology to GP; Jason Daida's discovery of a new set of factors underlying the dynamics of GP starting from applied research; and Stephen Freeland's essay on the lessons of biology for GP and the potential impact of GP on evolutionary theory.