Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options - from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy - this volume will remain an authoritative resource on this increasingly important area.

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.

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!

A description of the social, educational, and economic impact of living with a neurological genetic disorder, neurofibromatosis 1. The many unpredictable and potentially stigmatizing possible symptoms of NF1, which range from physical disfigurement to severe learning disorders, may have serious consequences in every aspect of daily life. NF1 was for many years wrongly diagnosed as the Elephant Man's Disease.

Ablon examines the psychosocial costs of this misdiagnosis and the ways in which stage, screen, and television parlayed The Elephant Man into the personification of the grimmist extreme of ugliness. This portrayal engendered fear and anxiety for affected persons and their families and also had an impact on the scientific and medical communities. Ablon analyzes the factors that affect individual positive adaptation to NF1 and the demands of American society, and offers suggestions for families, support systems, and health care providers for treatment of affected individuals.

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

This invaluable resource discusses insights ranging from basic biological mechanisms of various types of stem cells through the potential applications in the treatment of human diseases, including cancer and genetic disorders. These discoveries are placed within the structural context of tissue and developmental biology in sections dealing with recent advances in understanding different types of stem cell biology and their potential applications in tissue repair and regeneration and in the treatment different types of human cancer and genetic diseases or disorders. Stem Cells for Cancer and Genetic Disease Treatment and the other books in the Stem Cells in Clinical Applicationsseries will be invaluable to scientists, researchers, advanced students and clinicians working in stem cells, regenerative medicine or tissue engineering as well as cancer or genetics research.

Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.

The technical advances in molecular biology have endowed us with a wealth of knowledge, which has allowed us to identify the cause of diseases not only at a single gene level but at a greater magnitude, where a substitution or deletion of a single base pair can be identified. Our present task is to establish a clear link between phenotype and nucleotide sequence. Obviously, a gene is no longer an imaginary entity. Recent discoveries in a number of bewildering traits, whose inheritance do not follow simple mendelian rules, have caused much amazement. For example, fragile X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy arise from "triples repeat mutation" and amplification in future generations. Genetic diseases which are inherited, can now be diagnosed prenatally; an idea that was once inconceivable.
The aim of the second volume, entitled Morbid Anatomy of the Genome, is to reflect on the importance of molecular genetics in modern medicine. The field has expanded so as to warrant a volume dedicated exclusively toward understanding those who wish to know the cause, detection and in turn treatment of such diseases. In this volume, I have commissioned several scientists to contribute 12 chapters. A chapter describing a special role of molecular genetics in combating genetic diseases through gene therapy has also been included, while chapter 13 is a commentary.
A complete account of all diseases whose genetic basis is well established would be a herculean task and is not within the scope of a single volume format. Therefore a few specific topics have been chosen which may be of the greatest interest to scientists and clinicians. The purpose of this issue is to keep abreast of the latest developments in a select group of genetic diseases.

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"

Moebius syndrome is a rare congenital neurological disorder affecting 2 to 20 out of every 1,000,000 newborns. Patients suffer from total facial paralysis and cannot close their eyes or move them from side to side. Unable to smile, frown or otherwise express emotion, their everyday personal relationships are deeply affected. This memoir of a young woman with Moebius syndrome provides a first-person view of life ""behind the mask.

Congenital spine and spinal cord malformations; Congenital brain malformations (except cortical malformations); Malformations of cortical development; Congenital cystic neck lesions; A simplified approach to pediatric vascular malformations of the head and neck; Congenital face, maxillofacial anomalies; Congenital arterial and venous anomalies of brain, spine and neck; Fetal neuroimaging; Temporal bone malformations; Pediatric orbit; Neurosurgeon's perspective to congenital brain and spine malformations

This issue describes in detail the most current thinking on the way genes affect and determine sleep patterns, behaviors, disorders and needs. ? Sleep researchers continue to study genetic markers that may someday lead to a personalized approach to treatment of sleep disorders. The genetics of restless legs syndrome, narcolepsy, circadian rhythm disorders, obstructive sleep apnea, parasomnias, and insomnia are discussed. A solid understanding of the role genetics and molecular biology play in sleep will aid clinicians in diagnosing and treating these disorders, as well as advising their patients.

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)

Shéri Brynard has reached many remarkable milestones, although she was born with Down Syndrome. She talks about how love and acceptance from her family and friends formed her. She tells of her adventures, her pain and the harsh realities she has to face as an adult with Down Syndrome. Her mother tells the tale of living in Shéri’s shadow, speaking without holding back about her crisis of faith when she heard that her daughter had Down Syndrome. A touching tale.

Wyburn-Mason syndrome. Ever heard of it? Dan Jeffries has, and his insightful and hilarious memoir explores what it's like living with one of the world's rarest medical conditions - and then finding out you have another one. Told through an innovative new approach that combines the traditional reading experience with modern technology, Me, Myself & Eye really lets the reader delve into Dan's life story. Use your smart-phone, tablet or computer when you're reading the book to look at family photos, medical documents, scans, videos and even listen to music he's written over the years. Me, Myself & Eye is a memoir that is both fascinating and insightful, told with a fresh, honest and unique voice.

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons. Although "fixed", patients born with tetralogy of Fallot cannot be considered "cured". Improving survival and quality of life for this ever-increasing adult population will continue to challenge the current and future generations of cardiologists. Adult patients with tetralogy of Fallot should be seen by a cardiologist specializing in the care of adults with congenital heart disease, to be monitored for late complications. They need to be checked regularly for any subsequent complications or disturbances of heart rhythm. This monograph is intended as both an introduction to the subject and a timely, comprehensive review, and will be welcomed by adult cardiologists, pediatric cardiologists, internists, surgeons, obstetricians, and intensivists who wish to learn about the most recent discoveries and advances concerning tetralogy of Fallot in adults. It will also be of interest to advanced undergraduates wanting to learn more about the subject.

In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

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.

Teratology is the study of chemical-induced birth defects. This book is a comprehensive guide to the procedures and methods commonly employed in the safety testing of all classes of chemical for teratogenicity (also referred to as embryotoxicity, developmental toxicity or prenatal toxicity). The various international regulatory requirements are explained in detail, in order that the reader may perform all of the necessary studies for the successful registration or marketing authorisation of a new pharmaceutical, industrial chemical, crop protection product or food additive. Written in the highly successful Methods in Molecular Biology (TM) series format, each chapter gives clear complete instructions on how to perform the task in hand. The authors are respected experts in their field, all with hands-on experience of the procedures described. Teratogenicity Testing: Methods and Protocols gives crucial guidance and tips on how to deal with unexpected results and overcome regulatory difficulties.