Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.

Covers genetic disorders most likely to be of interest to primary-care physicians.

Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more.

Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. - Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field - Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine - Written at a verbal and technical level that can be understood by scientists and college students - Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Advances in genetics are transforming estimates of an individual’s risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.

Medical Genetics for the Modern Clinician is a concise, clinically oriented introductory genetics text for medical and allied health students, residents, and clinicians. The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing. More than 120 illustrations help students visualize concepts. Each chapter ends with USMLE-style review questions. Appendices include a glossary and a Table of Genes that lists all genes covered in the text by chapter. Faculty resources, case studies, and downloadable full-color images will be available on connection.LWW.com/go/westman.