Individuals with Angelman Syndrome (AS) present many unique challenges to professionals, parents and others who are committed to maximizing individuals’ competence while ensuring them the best possible quality of life. Angelman Syndrome: Communication, Educational, and Related Considerations is a unique, exhaustive compilation of existing material related to understanding the nature of AS and how individuals’ communication and related skills can be fostered most effectively. It provides readers with a comprehensive understanding of the background of Angelman Syndrome along with an in-depth exploration of communication (with a focus on augmentative and alternative communication), educational, and related issues that should be addressed when attempting to meet the needs of individuals with AS at home, school, work, and elsewhere in the community. Key features of the book include: • Extensive background information about medical and related factors behind AS and how they influence individuals’ learning • A series of prologues written by the parents of individuals with AS • Contributions from internationally recognized experts on AS, communication disorders, psychology and education • Numerous practical, evidence-based strategies for conducting assessments and carrying out interventions among AS affected individuals Speech-language pathologists, allied healthcare providers and educators providing support to affected individuals should benefit from the information provided in the book by being able to identify appropriate communication, behavioral and educational goals. Laypersons, particularly parents, will also find the information highly useful in advocating for best practices for their children (which is partly fostered by the series of parental prologues). Angelman Syndrome: Communication, Educational, and Related Considerations will not only serve as a valuable reference for improving the learning experience for AS affected individuals but will also embolden both professionals and parents to maintain higher expectations for them.

Consanguineous marriages have been practiced for hundreds of years, predominantly by Moslems. Although it is generally accepted among communities that the social advantages outweigh other, the rate of congenital malformations and genetic diseases among the offspring borne of consanguineous marriages is higher and an increase in sterility, rates of abortions, stillbirths and neonatal deaths has been suggested by some researchers. These problems result in a substantial economic burden within the communities involved in the practice. Strategies for reducing the frequency of consanguineous marriages include expansion of educational programs, promotion of genetic testing services, and research to identify the genes responsible for genetic defects. Nowadays, with the migration of large numbers of Moslems towards Western countries, consanguinity is becoming a practical issue in places where it was barely known, previously. This eBook serves as a guide for health care workers and counselors of the phenomenon and its associated problems. This eBook begins with an introduction of the topic from a social, legal and biological perspective. It then progresses to research about associated genetic disorders, reproductive and social awareness issues through the proceeding chapters. The eBook concludes with 2 chapters exploring strategies to counter the effects of consanguinity within the general population.

This book describes different medical problems that children with Down syndrome can encounter. Twelve chapters written by medical experts present information about the disease and give general guidelines for pediatric care. Readers are introduced to the epidemiology and risk factors associated with Down Syndrome followed by descriptions of medical issues related to the disease in children. These include neonatal problems, cardiac defects, respiratory disorders, gastrointestinal problems, nervous system disorders, dental disorders and more. The book also includes information on mental health development and social issues that arise in the lives of affected children. This handbook will be essential for medical students, healthcare professionals and special education personnel who are involved in the care of children with Down syndrome.

Recent advances in the fields of genomics and bioinformatics have made it increasingly clear that genetic sequence alone cannot explain how the genome regulates the development and function of complex multicellular organisms both in health and disease. This inference has led to the expansion of epigenetics as a discipline. Epigenetics refers to the way in which the environment in the wide sense participates in the regulation of gene expression. Several studies show that the well-known beneficial role of a healthy lifestyle over a number of pathologies or as a pre-emptive therapy is at least in part exerted through epigenetic mechanisms, thus giving rise to a new paradigm of preventive medicine based on the concept of genetic plasticity. In Epigenetics of Lifestyle, several contributors provide a comprehensive view of how various facets of lifestyle, including nutrition, exercise, stress, addiction or social interactions, affect chromatin (the combination of DNA and proteins that make up the contents of a cell nucleus) - resulting in profound and long-lasting changes in gene function. In summary, Epigenetics of Lifestyle is a fresh approach towards epigenetics and presents the reader with significant research findings in epigenetics and lifestyle studies. This volume is a simplified source of information for both undergraduate and working professionals interested in lifestyle medicine and life sciences in general.

RNA interference (RNAi) is a biological process in which small nucleotide sequences destroy specific mRNA molecules and, therefore, interrupt genetic expression. RNAi has rapidly developed into a widely used technique in biotechnology, experimental biology, genomics and medicine. Frontiers in RNAi is a collection of research articles covering the applications of RNAi principles and technologies and has been compiled by members of the RNAi Global Initiative, a collection of academic and industrial groups with extensive experience in genome-wide RNAi screening. Chapters included in the first volume touch on some of the recent advances in RNAi technology (i.e., applications to 3D cell culture, drug repurposing, and bioproduction) and provide guidance on how to address the continued challenges associated with off-target effects, database structuring, and pooled shRNA screens.

Introduction to Molecular Genomics introduces the college student to the fundamental concepts of molecular biology and genomics. The text puts an emphasis on important topics in the subject that contribute to the learner’s understanding. These topics include molecular genomics, biodiversity and molecular phenomenon behind evolution of species, modern molecular methods for enhanced genomics research, DNA modifications at the molecular level for transgenic animal species, the role of cell environment on the gene expression, to name a few. The book has been designed to suit the requirements of educational courses in molecular biology, genomics and biochemistry. <p> Key features <p> - Covers basic concepts on key topics in molecular biology and genomics <p> - Simple easy-to-read layout <p> - Includes references for further reading <p> - Includes a section on ethical aspects of scientific research <p> Introduction to Molecular Genomics is a simple primer for students in applied or advanced life science courses at undergraduate levels

Nucleic acid sequencing techniques have enabled researchers to determine the exact order of base pairs - and by extension, the information present - in the genome of living organisms. Consequently, our understanding of this information and its link to genetic expression at molecular and cellular levels has lead to rapid advances in biology, genetics, biotechnology and medicine. Next-Generation Sequencing and Sequence Data Analysis is a brief primer on DNA sequencing techniques and methods used to analyze sequence data. Readers will learn about recent concepts and methods in genomics such as sequence library preparation, cluster generation for PCR technologies, PED sequencing, genome assembly, exome sequencing, transcriptomics and more. This book serves as a textbook for students undertaking courses in bioinformatics and laboratory methods in applied biology. General readers interested in learning about DNA sequencing techniques may also benefit from the simple format of information presented in the book.

Sperm-mediated gene transfer (SMGT) represents a novel set of technologies for animal (or in the future, human) genetic modification using the sperm as a vector, as opposed to more traditional established routes such as fertilized eggs or embryonic stem cells. Studies of sperm-mediated gene transfer (SMGT) indicate that sperm cells possess the ability to be utilized as carriers of exogenous genetic sequences, offering the potential of a novel cost-effective route for germline genetic modification. The fate of transgenes borne by sperm cells has been inconsistent, and analysis of offspring from SMGT experiments has shown a mixed picture in terms of genomic integration of the transgene, suggesting an episomal mode of inheritance. Various distinct steps in transgene uptake by the sperm cell have been described or proposed, including a model based upon endogenous reverse transcriptase activity. Although mature sperm cells are naturally protected against uptake of foreign nucleic acid molecules, certain environmental conditions, for example at key times within the reproductive tract, may reduce this protection, suggesting that SMGT may occasionally take place in nature. If correct, this carries profound implications for evolution and human genetic health. This e-book brings together theoretical and empirical reviews from experts in SMGT, providing comprehensive coverage of the major trends, developments and controversies in this novel field. This e-book is intended as a reference for professional researchers in the field of animal genetic modification (transgenesis) as well as teachers, scientists and physicians interested in medical genetics in general and gene therapy in particular.

A major goal of integrative research is understanding regulatory networks to such an extent as to allow researchers to model developmental and stress responses. Regulatory networks of living systems include complex and vast interactions between proteins, metabolites, RNA, various signaling molecules and DNA. One aspect of systems biology is understanding the dynamics of protein-DNA interactions affecting gene expression that are caused by transcription factors (TFs) and chromatin remodeling factors. This e-book provides a resource for summarizing current knowledge eukaryotic transcription and explores cis-elements and methods for their analysis, prediction and discovery. The book also presents an overview of exploring gene regulatory networks, chromatin, and miRNAs. Information about state-of-the-art techniques for the determination of TF - cis-element interactions in vivo and in silico give cutting edge insights on how genomic-scale research is being approached. The Analysis of Regulatory DNA provides readers with both the necessary background knowledge and provocative, up-to-date insights aimed at sparking new and vibrant experimental designs for understanding and predicting cis-elements in the eukaryotic genome.

Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes. This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation: - Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies. - Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. - Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders. This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.