The riveting true story of John and Aileen Crowley's race to find a cure for Pompe disease that inspired the movie Extraordinary Measures

With three beautiful children, a new house, and financial security, John and Aileen Crowley were on top of the world--until their two youngest children, fifteen-month-old Megan and five-month-old Patrick, were diagnosed with Pompe disease and given only months to live. Refusing to accept a death sentence, John quit his financial consultant job and invested his life savings in a biotechnology start-up to research the disease and find a cure. Battling scientific setbacks, conflict of interest accusations, and business troubles, John and Aileen would be tested to their limits as they valiantly fought, and succeeded, in finding revolutionary new treatment for the disease--offering hope to Megan, Patrick, and the many children and families affected by Pompe disease around the world.

The inspiration for the captivating film Extraordinary Measures, starring Brendan Fraser and Harrison Ford, The Cure is a remarkable true story of cutting-edge science, business acumen and daring, and one family's indomitable spirit.

The essays in this collection examine how human heredity was understood between the end of the First World War and the early 1970s. The contributors explore the interaction of science, medicine and society in determining how heredity was viewed across the world during the politically turbulent years of the twentieth century.

Containing concise, updated, and easy-to-use summaries on a comprehensive range of clinical scenarios and conditions encountered by paediatricians and multi-disciplinary professionals in their everyday practice, this new edition of Neurodisability and Community Child Health has been substantially revised to be the ideal companion for anyone working with children.

'A perfect blend of cutting-edge science and compelling storytelling. Daniel Davis has a rare knack for making complex science comprehensible and thrilling' BILL BRYSON Welcome to a revolution in the science of you. Recent and dramatic breakthroughs in our understanding of the body will profoundly change the experience of being human in the coming century. Already they are opening up boundary-breaking possibilities for intervention at every level, from our brains and genes to our microbiomes and immune systems. These will confer unprecedented powers over health, childhood development, our cognitive and physical abilities, and affect every aspect of how we live our lives and think about ourselves. As the secrets of our bodies are revealed, we all will face previously unthinkable choices with consequences we have yet to understand. Imagine knowing years in advance the precise likelihood of developing specific cancers, thanks to a bespoke understanding of every cell in your body; following a diet and health regime tailored to your microbiome; continuous monitoring of your body's workings and well-being; taking drugs that improve your cognition and help to acquire new skills; manipulating the genes of your unborn children to eliminate disease or even enhance their capabilities. Written by an award-winning scientist at the forefront of this work, The Secret Body shows how these radical and disconcerting possibilities have been made real thanks to the ingenious technologies and decades-long collaborations of scientists worldwide. A gripping drama of discovery and a landmark account of this dawning revolution, it presents a vision of the human body of dizzying complexity, wonder and possibility. 'A beautifully rendered picture of the startling new discoveries in human biology which are radically altering our understanding of how we function and what our future holds' BRIAN COX 'An extraordinary journey that reveals the magnificence, intricacy and beauty of the human body, fundamentally changing the way we see ourselves. Masterful' ALICE ROBERTS

This is a most valuable contribution to paediatric diagnosis which highlights the importance of this essentially visual method in the study of practical paediatric problems. Each topic consists of a concise, informative and scholarly text supported, where appropriate, by key references, many giving a historical perspective. There are over 400 high quality colour plates with descriptive legends, many of which analyse in some detail the individual features of a face regarded as abnormal or dysmorphic, often a necessary practical prerequisite to establishing a definitive diagnosis. The importance of recognising subtle expressive changes and 'facial signals' is considered in relation to emotional disorders. Throughout, the book is leavened by tables listing important diagnostic clues, cranio-facial or otherwise.

The essays in this collection examine how human heredity was understood between the end of the First World War and the early 1970s. The contributors explore the interaction of science, medicine and society in determining how heredity was viewed across the world during the politically turbulent years of the twentieth century.

Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena. The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.

Debating Human Genetics is based on ethnographic research focusing primarily on the UK publics who are debating and engaging with human genetics, and related bio and techno-science. Drawing on recent interviews and data, collated in a range of public settings, it provides a unique overview of multiple publics as they 'frame' the stake of the debates in this emerging, complex and controversial arena.

The book outlines key sites and applications of human genetics that have sparked public interest, such as biobanks, stem cells, genetic screening and genomics. It also addresses the 'scientific contoversies' that have made considerable impact in the public sphere - the UK police DNA database, gene patenting, 'saviour siblings', and human cloning. By grounding the concepts and issues of human genetics in the real life narratives and actions of patient groups, genetic watchdogs, scientists, policy makers, and many other public groups, the book exemplifies how human genetics is a site where public knowledge and value claims converge and collide, and identifies the emergence of 'hybrid publics' who are engaging with this hybrid science.

Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease in the context of emerging therapeutic modalities. The only available source on the subject, this reference emphasizes the importance of accurate diagnosis, carrier detection, and genetic counseling, and supplies state-of-the-art contributions on pharmacological interventions, regenerative medicine, and gene therapy.

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!

This volume begins with a summary of the classical genetic studies and molecular genetic studies of the most common diseases, and indicates what makes them amenable to analysis and treatment. A range of possible future therapeutic options are discussed, from conventional drug targets through to gene therapy. The final chapters assess the value of diagnosis and prediction of the inheritance of various diseases.

This volume offers therapists effective, practical strategies for helping patients overcome the psychological impact of a history of serious illness in the family. Using illustrative case material, the author discusses the feelings of powerlessness that family illness can produce in an individual, and describes techniques for fostering a healthier, more empowered attitude. She shows how various assessment exercises and validation techniques can help the person distinguish between reality and the myths that evolved as a result of the family illness.

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'A big-picture forecast of how medicine stands on the threshold of a revolution that will radically change all of our lives' The Times Welcome to a revolution in the science of you! This landmark new book from award-winning scientist Daniel M. Davis explores the future of the human body. Imagine taking drugs to help you acquire new skills, or knowing years in advance the precise likelihood of developing specific cancers, or following a diet and health regime tailored to your microbiome, or even having continuous monitoring of your body's workings and well-being. Written by an award-winning scientist, this landmark book shows how these radical and disconcerting possibilities have been made real. It is at once a gripping drama of scientific ingenuity, discovery and collaboration, and a vision of the human body of dizzying complexity and wonder. 'The startling new discoveries...are radically altering our understanding of how we function and what our future holds' BRIAN COX 'Thrilling' BILL BRYSON 'Brilliant' TIM SPECTOR 'Extraordinary' ALICE ROBERTS

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

The page-turning, never-before-told story of Kim Campbell's roller-coaster thirty-four-year marriage to music legend Glen Campbell, including how Kim helped Glen finally conquer his addictions only to face their greatest challenge when he was diagnosed with Alzheimer's disease. Kim Campbell was a fresh-faced twenty-two-year-old dancer at Radio City Music Hall when a friend introduced her to Glen Campbell, the chart-topping, Grammy-winning, Oscar-nominated entertainer. The two performers from small Southern towns quickly fell in love, a bond that produced a thirty-four-year marriage and three children. In Gentle on My Mind, Kim tells the complete, no-holds-barred story of their relationship, recounting the highest of highs-award shows, acclaimed performances, the birth of their children, encounters with Mick Fleetwood, Waylon Jennings, Alan Jackson, Alice Cooper, Jane Seymour, and others-and the lowest of lows, including battles with alcohol and drug addiction and, finally, Glen's diagnosis, decline, and death from Alzheimer's. With extraordinary candor, astonishing bravery, and a lively sense of humor, Kim reveals the whole truth of life with an entertainment giant and of caring for and loving him amid the extraordinary challenge of Alzheimer's disease. This is a remarkable account of enduring love, quiet strength, and never-faltering faith.

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of * signs of inherited cancer risk in a family; * the value of genetic counseling and testing; * mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; * risk-reducing strategies; * traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; * nationally recommended guidelines for prevention, early detection, and treatment; * insurance coverage and discrimination protections; and * coping with sexual health, fertility, menopause, and other quality of life issues.

This book addresses the impact of genetic deafness/hearing impairment on people' s lives and those around them. It includes the perspectives of those who are deaf or hard of hearing as well as those working in the field. Professional topics include genetic counselling, social science, psychology, social work and - within medicine - audiological and ENT medical and audiological paediatrics. These practitioners are both hearing and hearing impaired.

The impact of deafness on children, those of working age and elderly people is discussed highlighting the specific effect of genetic factors. In particular there are chapters on deafblindness and otosclerosis and NF2 (a potentially lethal condition). The Who definitions and ICF are used as a framework for considering the effect on people' s lives of impairment and their participation in society.

This provides a bridge between the medical and social models of disability. Contributors write from both their professional and personal experience in order to try and address some of the issues raised by the real impact of genetic deafness on everyday life and how these can best be tackled by those working in the field.

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of * signs of inherited cancer risk in a family; * the value of genetic counseling and testing; * mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; * risk-reducing strategies; * traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; * nationally recommended guidelines for prevention, early detection, and treatment; * insurance coverage and discrimination protections; and * coping with sexual health, fertility, menopause, and other quality of life issues.

The untold story of how hereditary data in mental hospitals gave rise to the science of human heredity In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. Genetics in the Madhouse is the untold story of how the collection of hereditary data in asylums and prisons gave rise to a new science of human heredity. Theodore Porter looks at the institutional use of innovative quantitative practices-such as pedigree charts and censuses of mental illness-that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Genetics in the Madhouse brings to light the hidden history behind modern genetics and deepens our appreciation of the moral issues at stake in data work conducted at the border of subjectivity and science.

The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. * New contributors reflecting broader international authorship and even greater expertise * Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations * Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date * Now produced in full color for enhanced clarity * Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent * Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that causes blood vessel abnormalities in the nose, skin, gastrointestinal tract, lungs, brain, and liver. Nosebleeds are the most common symptom of HHT, but abnormal vessels in other organs, if they are not diagnosed and treated, can lead to serious medical complications, including stroke, hemorrhage, anemia, and brain abscess. Psychologist Sara Palmer, who has HHT herself and is an expert in helping people cope with health conditions, draws on current research as she thoroughly describes the symptoms of HHT, explains how the diagnosis is made (and often missed), and details treatment options. While addressing the medical aspects of HHT, Palmer also reveals how people affected by the disorder can maintain their emotional health, take care of family members, and live life as fully as possible. Enriched with illustrations, personal stories of people living with HHT, a glossary, and contact information for the HHT Centers of Excellence (which provide coordinated medical treatment for people with the disorder), Living with HHT is a complete resource for individuals with HHT and their families. This guide is also essential for health professionals seeking more information about this underdiagnosed disease.

This new volume of "Methods in Enzymology" continues the legacy of this premier serial with quality chapters authored by leaders in the field. This volume covers microbial metagenomics, metatranscriptomics, and metaproteomics, and includes chapters on such topics as in-solution FISH for single cell genome preparation, preparation of BAC libraries from marine microbial community DNA, and preparation of microbial community cDNA for metatranscriptomic analysis in marine plankton.
Continues the legacy of this premier serial with quality chapters authored by leaders in the field Covers microbial metagenomics, metatranscriptomics, and metaproteomicsContains chapters on such topics as in-solution fluorescence in situ hybridization (FISH) for single cell genome preparation, preparation of BAC libraries from marine microbial community DNA, and preparation of microbial community cDNA for metatranscriptomic analysis in marine plankton

This is a comprehensive book addressing steroid disorders from hormonal, genetic, psychological, and surgical perspectives. It is meant to educate adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It will assist these specialists in the diagnosis and treatment of steroid disorders. The book is written for postgraduate and faculty-level physicians. The content consists of steroid disorders, genetic bases for the disorder and case presentations of each disorder.
Provides a common language for professionals todiscuss and diagnose genetic steroid disordersIncludes the very latest details on genetic tests and diagnosesOffers a strong understanding of the molecular basis for the diseases and therefore correct diagnosis and treatment of steroid disorders Presents insight into which medications to use based on the genetic makeup of a patient Teaches the best strategies and most effective use of genetic information in the patient counseling setting"

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.

The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.

The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.

The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

Genetic Diseases of the Kidney identifies and analyzes genetic abnormalities causing renal diseases in human subjects. Although in a sense the genome contains all the instructions required for the formation of a phenotype, the information is encoded in an extremely complicated fashion. In primary genetic diseases, the genetic instruction specifies a phenotype clearly linked with a discreet lesion confined to the kidney. However, the genetic disturbance may be imbedded in a complicated physiologic ensemble, so that the nexus between the genetic disturbance and the phenotype may be obscured; in consequence, the causal sequence is extremely difficult to unravel. In many instances the renal disease is one component of a complicated systemic hereditary disease, either monogenic or polygenic. Indeed, renal disease may arise as the sum of minor inputs from many different, seemingly unrelated genes, so that the genetic contributions may be difficult to identify. Confounding the problem further are environmental influences, originating either in the chromosomal environment from modifier genes, or in the extra-chromosomal environmental from intrauterine or postnatal influences. These considerations have determined both the organization of the text as well as the detailed description of the genetic disorders and the physiologic derangements that emerge.
* Lays the essential foundation of mammalian genetics principles for medical professionals with little to no background in genetics
* Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes.
*World-renowned editors andauthors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)