Skip to main content

Genomics Of Rare Diseases

In Order to Read Online or Download Genomics Of Rare Diseases Full eBooks in PDF, EPUB, Tuebl and Mobi you need to create a Free account. Get any books you like and read everywhere you want. Fast Download Speed ~ Commercial & Ad Free. We cannot guarantee that every book is in the library!

Genomics of Rare Diseases

Genomics of Rare Diseases Book
Author : Claudia Gonzaga-Jauregui,James R. Lupski
Publisher : Academic Press
Release : 2021-03-15
ISBN : 9780128201404
Language : En, Es, Fr & De

GET BOOK

Book Description :

It is estimated that approximately 350 million people worldwide are affected by a rare disorder. While individually rare, as a group, rare diseases constitute a substantial healthcare problem. The majority of these rare diseases have a significant genetic component, either as a penetrant driver of the disorder or as a major susceptibility factor for developing the disease. Many patients can go undiagnosed for decades while receiving inappropriate and costly treatments for their condition uninformed by the actual molecular defect and the underlying biology of disease. Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad but deep understanding of our current knowledge of rare diseases through a genomics lens and examines what this teaches us about disease biology. A clear understanding of the latest molecular and genomic technologies that have already been used to elucidate the molecular causes of more than 5,000 genetic disorders will bring readers closer to unraveling the many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that studying these disorders provide for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders, and mosaicism. Compiles applied case studies and methodology, enabling researchers, clinicians, and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Book
Author : Arvin M. Gouw,Amritha Jaishankar,George A. Brooks
Publisher : Frontiers Media SA
Release : 2020-03-03
ISBN : 2889635244
Language : En, Es, Fr & De

GET BOOK

Book Description :

A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This Research Topic provides a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.

Genomics

Genomics Book
Author : Julian Parkhill,Sarah J. Lindsay,Phil Jones,Lia Chappell,Jonathon Roberts,Nancy Holroyd,Michal Spzak,Francesca (Wellcome Sanger Institute) Gale
Publisher : Oxford University Press, USA
Release : 2020-04-15
ISBN : 0198848382
Language : En, Es, Fr & De

GET BOOK

Book Description :

This Oxford Biology Primer will introduce students to the field of genomics and its applications. From the early days of the Human Genome Project, sequencing technology has rapidly developed and is now cheaper and more accessible than ever before. The resulting pervasive nature of these technologies make them more likely to be experienced by people as patients, consumers and citizens. The primer introduces the basic principles of genomics and then uses these to consider human genetics, through examples of some of the rare diseases linked to single genes. The impact of these rare diseases is far-reaching and the knowledge gained through genome sequencing is proving invaluable in their diagnosis. Genome sequencing is revolutionising the diagnosis and treatment of cancer, and the primer introduces students to some of the key breakthroughs which have taken place in recent years. These include the identification of specific genes indicating cancer risk, and the sequencing of tumours throughout treatment to identify further mutations and modify treatment accordingly. The primer aims to address a number of the ethical issues which are raised by this rapidly-growing area of biology. Students are challenged to consider some of the decisions they may need to make relating to these technologies in their own lives, and are given opportunities to explore different aspects of these issues in a way which allows discussion to be both informed and meaningful. The study of infectious disease is also feeling the impact of genomics: the primer discusses the concept of pathogen genome sequencing, and illustrates the various ways in which this can be used - for example, enabling us to find different solutions to infections, to track outbreaks of disease to their source, and to identify and possibly ultimately combat antibiotic resistance. Many of the major diseases which impact the global population are caused by parasites, which come in a wide variety of shapes and sizes. The primer introduces students to the importance of understanding parasite genomes. Parasite genome sequencing makes it possible to develop both new medicines, and new treatments such as gene drive systems to wipe out disease-causing mosquito populations. For many years, our views of classification and evolution have been based on observational techniques going back to Darwin and Linnaeus. Focusing on human evolution, the primer will open students' eyes to the ways in which genome sequencing is being used to reveal evolutionary links that have never before been recognised, and to elucidate the way humans spread out of Africa across the world. Students are not always aware of the role technological developments play in enabling the progress of science. The final chapter delves into how genome sequencing technologies have developed, considering both the speed of change in the technology, its implications for usefulness, availability and cost, and the growing issue of big data and how it can be manipulated. The different technologies described in this chapter are referenced throughout the book.

Rare Diseases

Rare Diseases Book
Author : Meral Özgüç
Publisher : Springer
Release : 2014-09-08
ISBN : 9401792143
Language : En, Es, Fr & De

GET BOOK

Book Description :

This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent “proof-of-principles” for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, “doctor-patient” collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value.

Rare Diseases in the Age of Health 2 0

Rare Diseases in the Age of Health 2 0 Book
Author : Rajeev K. Bali,Lodewijk Bos,Michael Christopher Gibbons,Simon Ibell
Publisher : Springer Science & Business Media
Release : 2013-10-21
ISBN : 3642386431
Language : En, Es, Fr & De

GET BOOK

Book Description :

This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Rare Diseases Epidemiology Update and Overview

Rare Diseases Epidemiology  Update and Overview Book
Author : Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
Publisher : Springer
Release : 2017-12-06
ISBN : 3319671448
Language : En, Es, Fr & De

GET BOOK

Book Description :

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope Book
Author : Ana Sanfilippo and
Publisher :
Release : 2017-04-20
ISBN : 9781366067357
Language : En, Es, Fr & De

GET BOOK

Book Description :

This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. "These rare diseases are collectively so common, affecting over 300 million globally," said co-author Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was a year long process to examine the topic from all sides. The book brings together interviews with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. "We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases," said co-author Ana Sanfilippo. The book includes expert interviews and remarkable stories from families like: - Amylynne Volker whose son was the first child saved through DNA sequencing -Dallas police officer Mark Dant who raised over $3 million for research that saved his son Ryan's life -John Crowley, who saved his own children's lives through creating a new company to develop a new drug, which is now the standard of care -Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note that there is no markup on the book.

Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Book
Author : Helen V. Firth,Jane A. Hurst
Publisher : Oxford University Press
Release : 2017
ISBN : 0199557500
Language : En, Es, Fr & De

GET BOOK

Book Description :

Preceded by Oxford desk reference. Clinical genetics / Helen V. Firth, Jane A. Hurst, with Judith G. Hall (consulting editor). 2005.

Rare Diseases Diagnosis Therapies and Hope

Rare Diseases  Diagnosis  Therapies and Hope Book
Author : Ana Sanfilippo,Jimmy Lin
Publisher :
Release : 2014-07-01
ISBN : 9781320056601
Language : En, Es, Fr & De

GET BOOK

Book Description :

This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Amazon book price only.

Investigating the Human Genome

Investigating the Human Genome Book
Author : Moyra Smith
Publisher : FT Press
Release : 2011-06-08
ISBN : 0132172844
Language : En, Es, Fr & De

GET BOOK

Book Description :

Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.

Rare Diseases and Orphan Products

Rare Diseases and Orphan Products Book
Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development
Publisher : National Academies Press
Release : 2011-04-03
ISBN : 0309158060
Language : En, Es, Fr & De

GET BOOK

Book Description :

Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

Human Genome Informatics

Human Genome Informatics Book
Author : Christophe Lambert,Darrol Baker,George P. Patrinos
Publisher : Academic Press
Release : 2018-08-02
ISBN : 0128134313
Language : En, Es, Fr & De

GET BOOK

Book Description :

Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Clinical Genomics

Clinical Genomics Book
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release : 2014-11-10
ISBN : 0124051731
Language : En, Es, Fr & De

GET BOOK

Book Description :

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Applied Computational Genomics

Applied Computational Genomics Book
Author : Yin Yao Shugart
Publisher : Springer Science & Business Media
Release : 2012-12-30
ISBN : 9400755589
Language : En, Es, Fr & De

GET BOOK

Book Description :

"Applied Computational Genomics" focuses on an in-depth review of statistical development and application in the area of human genomics including candidate gene mapping, linkage analysis, population-based, genome-wide association, exon sequencing and whole genome sequencing analysis. The authors are extremely experienced in the area of statistical genomics and will give a detailed introduction of the evolution in the field and critical evaluations of the advantages and disadvantages of the statistical models proposed. They will also share their views on a future shift toward translational biology. The book will be of value to human geneticists, medical doctors, health educators, policy makers, and graduate students majoring in biology, biostatistics, and bioinformatics. Dr. Yin Yao Shugart is investigator in the Intramural Research Program at the National Institute of Mental Health, Bethesda, Maryland USA. ​

Reproductive Genomics in Domestic Animals

Reproductive Genomics in Domestic Animals Book
Author : Zhihua Jiang,Troy L. Ott
Publisher : John Wiley & Sons
Release : 2011-06-17
ISBN : 0470961821
Language : En, Es, Fr & De

GET BOOK

Book Description :

Reproductive Genomics in Domestic Animals is a thorough examination of genomics in the livestock industry, encompassing genome sciences, genome biotechnology, and reproduction. Recent developments in molecular genetics and genomics have enabled scientists to identify and characterize genes contributing to the complexity of reproduction in domestic animals, allowing scientists to improve reproductive traits. Providing the livestock industry with essential tools for enhancing reproductive efficiency, Reproductive Genomics in Domestic Animals surveys the current status of reproductive genomes and looks to the future direction of research.

Cardiovascular Genetics and Genomics in Clinical Practice

Cardiovascular Genetics and Genomics in Clinical Practice Book
Author : Donna K. Arnett, PhD,Sanjiv J. Shah, MD
Publisher : Demos Medical Publishing
Release : 2014-11-10
ISBN : 1617051780
Language : En, Es, Fr & De

GET BOOK

Book Description :

Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publisher : National Academies Press
Release : 2018-06-16
ISBN : 0309473411
Language : En, Es, Fr & De

GET BOOK

Book Description :

Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.

Clinical Genomics Practical Applications for Adult Patient Care

Clinical Genomics  Practical Applications for Adult Patient Care Book
Author : Michael T. Murray, MD,Mark Babyatski, MD
Publisher : McGraw Hill Professional
Release : 2013-11-07
ISBN : 0071622446
Language : En, Es, Fr & De

GET BOOK

Book Description :

The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.

Precision Medicine A Guide to Genomics in Clinical Practice

Precision Medicine  A Guide to Genomics in Clinical Practice Book
Author : Jeanette J. McCarthy,Bryce A. Mendelsohn
Publisher : McGraw Hill Professional
Release : 2017-01-05
ISBN : 1259644146
Language : En, Es, Fr & De

GET BOOK

Book Description :

Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: •Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support •Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage •Organization allows healthcare providers to quickly and easily find the information relevant to their practice. •The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare •Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practicebelongs on your desk.

Emery s Elements of Medical Genetics E Book

Emery s Elements of Medical Genetics E Book Book
Author : Peter D Turnpenny,Sian Ellard
Publisher : Elsevier Health Sciences
Release : 2011-03-04
ISBN : 0702045055
Language : En, Es, Fr & De

GET BOOK

Book Description :

Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.