This book is an overview of autism spectrum disorder (ASD), an early childhood condition that affects 1 in 68 children in the United States, and an estimated 1 to 2 percent of children worldwide. ASD causes impaired social skills, communication problems, and repetitive behaviors. The severity of ASD symptoms varies widely, ranging from mild effects with minimal impacts on functionality to severe effects that interfere with functionality and can prevent independent living. ASD is a complex trait disease caused by mutation of multiple ASD susceptibility genes, but it also occurs as part of monogenic genetic syndromes. Genetic testing for ASD is described in the book, and examples of ASD susceptibility genes. No treatments are available for the core symptoms of ASD, but the book describes therapies and drug treatments that can modulate them and address some of the health complications of ASD. The book presents new ASD biomarkers that can be used for better diagnosis and explores the hopeful prospect of personalized medicine for ASD.
This book describes Huntington’s disease (HD), a rare neurodegenerative genetic disorder that causes a triad of motor, cognitive, and psychiatric/behavioral symptoms and affects about 6 in 100,000 people worldwide. Although the age of onset of HD symptoms is usually 30 to 50 years, a rare juvenile-onset form of HD also occurs. The autosomal dominant pattern of inheritance followed by HD is illustrated in the book with pedigree scenarios. The author details how mutations in the HTT gene on chromosome 4 cause HD and how a genetic test can be used by people who might have inherited adult-onset HD and couples who are at risk for passing HD on to their children. The book describes the available treatments for HD and presents new approaches such as experimental drugs, stem cell therapy, and gene therapy that might be able to effectively treat or even cure HD.
This book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening. It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited. There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.
This book presents Down syndrome, which is the most common chromosomal disorder in humans, occurring at a rate of about 1 in 700 births. It describes the characteristic physical features caused by Down syndrome and the myriad of symptoms and health complications it brings, including heart defects, congenital vision and hearing loss, abnormalities of the musculoskeletal system, digestive problems, epilepsy, leukemia, an increased risk of infectious disease, dementia, and intellectual disability. Readers will learn about methods by which Down syndrome can be diagnosed prenatally or at birth, and the cause of Down syndrome as extra copies of the approximately 250 genes on chromosome 21. The book describes treatments and therapies for Down syndrome, and approaches to the education of children with it. Future prospects for the diagnosis and treatment of Down syndrome are presented, including experimental drugs, stem cell therapies, a process by which embryos produced in a clinical laboratory can be screened for Down syndrome before being used to establish a pregnancy, and several Down syndrome gene therapy strategies.
This book describes how obesity results from an imbalance between the intake of food energy and the expenditure of energy from physical activity and increases the risk of serious health problems including heart disease, stroke, osteoarthritis, and several types of cancer. Obesity is a global health problem that has reached epidemic levels. The worldwide prevalence of adult obesity is 13 percent of adults and 7 percent of children. The author explains how body mass index (BMI) can be used to screen for obesity, but that its diagnosis depends on clinical measurement of total body fat content and distribution. The book describes rare forms of obesity caused by a single gene or a genetic syndrome, and common obesity, a complex disease caused by multiple genetic and environmental risk factors. The book presents examples of obesity susceptibility genes and describes obesity genetic testing. It details how obesity can usually be treated with dietary changes, increased physical activity, and behavioral modification, but that people with extreme obesity or those who have serious health complications, require pharmaceutical or surgical interventions. Dr. Eckdahl discusses promising prospects for the treatment of obesity involving new pharmaceuticals, stem cell therapy, gene therapy, and fecal microbiota transplants.
Hemophilia is a genetic disease that impairs the normal process of blood clotting and results in uncontrolled external and internal bleeding. The reader of this book will learn how a diagnosis of hemophilia is made by blood clotting tests and measurements of clotting factor levels in blood. The book describes how hemophilia A and B are caused by mutations in genes that encode clotting factor VIII and clotting factor IX, respectively, both of which are carried on the X chromosome. As a result, almost all children born with hemophilia A and B are boys. Hemophilia C is caused by mutations in the clotting factor XI gene on chromosome 4, and occurs in males and females with equal frequency. The author details the use of factor replacement therapy to treat hemophilia, and evaluates the prospects for curing hemophilia through gene therapy and genome editing.
Sickle cell disease (SCD) is the most common genetic blood disorder in the world. Millions of people in the world have SCD and about 300,000 babies are born with it each year. Readers will learn about the major symptoms of SCD, including chronic anemia, delayed growth, spleen dysfunction, opportunistic infections, vision loss, leg ulcers, stroke, and heart problems. The book explains how the primary cause of SCD is a gene mutation that causes hemoglobin to polymerize in red blood cells, making them adopt an abnormal sickle shape. Sickled cells carry less oxygen and occlude blood vessels in tissues and organs throughout the body. The reader will learn how SCD is inherited and how genetic testing can provide information that prospective parents can use to make reproductive decisions. The book presents treatments for SCD such as pain medications, antibiotic therapy, blood transfusions, and bone marrow transplantation. Future prospects for diagnosing, treating, and curing SCD are evaluated, including maternal blood screening, preimplantation genetic diagnosis, gene therapy, and genome editing.
Cystic fibrosis (CF) is one of the most common genetic diseases, affecting about 70,000 people throughout the world, with over 1,000 new cases diagnosed each year. This book describes the symptoms of CF including lung disease, digestive problems, pancreatic insufficiency, liver disease, intestinal obstruction, and infertility. It explains how CF is caused by mutations in the CFTR gene encoding a protein ion channel that maintains the balance of salt and water in the lungs and other organs. The book presents CF as an autosomal recessive disease that can arise in families with no prior history of CF. The reader will learn about treatments and therapies for CF, including antibiotics for infections, medicines for improved digestion, respiratory therapy, and pancreatic enzyme replacement. The book describes promising new pharmaceutical discoveries that enable personalized medicine for the treatment of CF. It evaluates the prospects for curing CF through gene therapy and explains how genome editing may be used in the future to correct the CFTR gene mutations underlying CF.
This book describes newborn screening as a public health program for the early detection of genetic disorders. It presents the recommended uniform screening panel (RUSP), a list of genetic disorders recommended by the U.S. government for states to include in newborn screening programs. The author describes the categorization of RUSP genetic disorders, discusses the symptoms and health complications of examples from each category, and explains clinical laboratory tests used for newborn screening. The book explores the underlying molecular genetic causes of genetic disorders, and how this information is used for genetic testing during newborn screening and diagnosis. It presents the patterns of inheritance of monogenic genetic disorders, and uses hypothetical family scenarios to illustrate them. Treatments and therapies for selected RUSP genetic disorders are described that illustrate the benefits of early diagnosis. The book describes future prospects for the prevention, diagnosis, and treatment of genetic disorders detected by newborn screening, including experimental drug treatments, the possibility of newborn genome sequencing, and gene therapy.
This book presents examples of hereditary blindness and deafness that illustrate the large variety of genetic diseases that affect vision and hearing. It describes seven hereditary eye diseases, three genetic syndromes that cause deafness, and four types of nonsyndromic deafness. The author explains the diagnosis of hereditary blindness and deafness in children and adults and describes the patterns of inheritance of blindness and deafness, illustrating each with family scenarios. The practice of genetic testing is described, which can provide information that prospective parents can use to make reproductive decisions. The text also presents treatments and therapies for hereditary blindness and deafness such as hearing aids, cochlear implants, and corneal implants. It describes future prospects for diagnosing, treating, and curing hereditary blindness and deafness, including experimental drugs, stem cell therapy, preimplantation genetic diagnosis, and gene therapy.
Hemophilia is a genetic disease that impairs the normal process of blood clotting and results in uncontrolled external and internal bleeding. The reader of this book will learn how a diagnosis of hemophilia is made by blood clotting tests and measurements of clotting factor levels in blood. The book describes how hemophilia A and B are caused by mutations in genes that encode clotting factor VIII and clotting factor IX, respectively, both of which are carried on the X chromosome. As a result, almost all children born with hemophilia A and B are boys. Hemophilia C is caused by mutations in the clotting factor XI gene on chromosome 4, and occurs in males and females with equal frequency. The author details the use of factor replacement therapy to treat hemophilia, and evaluates the prospects for curing hemophilia through gene therapy and genome editing.
Cystic fibrosis (CF) is one of the most common genetic diseases, affecting about 70,000 people throughout the world, with over 1,000 new cases diagnosed each year. This book describes the symptoms of CF including lung disease, digestive problems, pancreatic insufficiency, liver disease, intestinal obstruction, and infertility. It explains how CF is caused by mutations in the CFTR gene encoding a protein ion channel that maintains the balance of salt and water in the lungs and other organs. The book presents CF as an autosomal recessive disease that can arise in families with no prior history of CF. The reader will learn about treatments and therapies for CF, including antibiotics for infections, medicines for improved digestion, respiratory therapy, and pancreatic enzyme replacement. The book describes promising new pharmaceutical discoveries that enable personalized medicine for the treatment of CF. It evaluates the prospects for curing CF through gene therapy and explains how genome editing may be used in the future to correct the CFTR gene mutations underlying CF.
This book describes Huntington’s disease (HD), a rare neurodegenerative genetic disorder that causes a triad of motor, cognitive, and psychiatric/behavioral symptoms and affects about 6 in 100,000 people worldwide. Although the age of onset of HD symptoms is usually 30 to 50 years, a rare juvenile-onset form of HD also occurs. The autosomal dominant pattern of inheritance followed by HD is illustrated in the book with pedigree scenarios. The author details how mutations in the HTT gene on chromosome 4 cause HD and how a genetic test can be used by people who might have inherited adult-onset HD and couples who are at risk for passing HD on to their children. The book describes the available treatments for HD and presents new approaches such as experimental drugs, stem cell therapy, and gene therapy that might be able to effectively treat or even cure HD.
Sickle cell disease (SCD) is the most common genetic blood disorder in the world. Millions of people in the world have SCD and about 300,000 babies are born with it each year. Readers will learn about the major symptoms of SCD, including chronic anemia, delayed growth, spleen dysfunction, opportunistic infections, vision loss, leg ulcers, stroke, and heart problems. The book explains how the primary cause of SCD is a gene mutation that causes hemoglobin to polymerize in red blood cells, making them adopt an abnormal sickle shape. Sickled cells carry less oxygen and occlude blood vessels in tissues and organs throughout the body. The reader will learn how SCD is inherited and how genetic testing can provide information that prospective parents can use to make reproductive decisions. The book presents treatments for SCD such as pain medications, antibiotic therapy, blood transfusions, and bone marrow transplantation. Future prospects for diagnosing, treating, and curing SCD are evaluated, including maternal blood screening, preimplantation genetic diagnosis, gene therapy, and genome editing.
This book presents Down syndrome, which is the most common chromosomal disorder in humans, occurring at a rate of about 1 in 700 births. It describes the characteristic physical features caused by Down syndrome and the myriad of symptoms and health complications it brings, including heart defects, congenital vision and hearing loss, abnormalities of the musculoskeletal system, digestive problems, epilepsy, leukemia, an increased risk of infectious disease, dementia, and intellectual disability. Readers will learn about methods by which Down syndrome can be diagnosed prenatally or at birth, and the cause of Down syndrome as extra copies of the approximately 250 genes on chromosome 21. The book describes treatments and therapies for Down syndrome, and approaches to the education of children with it. Future prospects for the diagnosis and treatment of Down syndrome are presented, including experimental drugs, stem cell therapies, a process by which embryos produced in a clinical laboratory can be screened for Down syndrome before being used to establish a pregnancy, and several Down syndrome gene therapy strategies.
This book is an overview of autism spectrum disorder (ASD), an early childhood condition that affects 1 in 68 children in the United States, and an estimated 1 to 2 percent of children worldwide. ASD causes impaired social skills, communication problems, and repetitive behaviors. The severity of ASD symptoms varies widely, ranging from mild effects with minimal impacts on functionality to severe effects that interfere with functionality and can prevent independent living. ASD is a complex trait disease caused by mutation of multiple ASD susceptibility genes, but it also occurs as part of monogenic genetic syndromes. Genetic testing for ASD is described in the book, and examples of ASD susceptibility genes. No treatments are available for the core symptoms of ASD, but the book describes therapies and drug treatments that can modulate them and address some of the health complications of ASD. The book presents new ASD biomarkers that can be used for better diagnosis and explores the hopeful prospect of personalized medicine for ASD.
This book describes how obesity results from an imbalance between the intake of food energy and the expenditure of energy from physical activity and increases the risk of serious health problems including heart disease, stroke, osteoarthritis, and several types of cancer. Obesity is a global health problem that has reached epidemic levels. The worldwide prevalence of adult obesity is 13 percent of adults and 7 percent of children. The author explains how body mass index (BMI) can be used to screen for obesity, but that its diagnosis depends on clinical measurement of total body fat content and distribution. The book describes rare forms of obesity caused by a single gene or a genetic syndrome, and common obesity, a complex disease caused by multiple genetic and environmental risk factors. The book presents examples of obesity susceptibility genes and describes obesity genetic testing. It details how obesity can usually be treated with dietary changes, increased physical activity, and behavioral modification, but that people with extreme obesity or those who have serious health complications, require pharmaceutical or surgical interventions. Dr. Eckdahl discusses promising prospects for the treatment of obesity involving new pharmaceuticals, stem cell therapy, gene therapy, and fecal microbiota transplants.
This book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening. It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited. There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.
This book presents examples of hereditary blindness and deafness that illustrate the large variety of genetic diseases that affect vision and hearing. It describes seven hereditary eye diseases, three genetic syndromes that cause deafness, and four types of nonsyndromic deafness. The author explains the diagnosis of hereditary blindness and deafness in children and adults and describes the patterns of inheritance of blindness and deafness, illustrating each with family scenarios. The practice of genetic testing is described, which can provide information that prospective parents can use to make reproductive decisions. The text also presents treatments and therapies for hereditary blindness and deafness such as hearing aids, cochlear implants, and corneal implants. It describes future prospects for diagnosing, treating, and curing hereditary blindness and deafness, including experimental drugs, stem cell therapy, preimplantation genetic diagnosis, and gene therapy.
This book describes newborn screening as a public health program for the early detection of genetic disorders. It presents the recommended uniform screening panel (RUSP), a list of genetic disorders recommended by the U.S. government for states to include in newborn screening programs. The author describes the categorization of RUSP genetic disorders, discusses the symptoms and health complications of examples from each category, and explains clinical laboratory tests used for newborn screening. The book explores the underlying molecular genetic causes of genetic disorders, and how this information is used for genetic testing during newborn screening and diagnosis. It presents the patterns of inheritance of monogenic genetic disorders, and uses hypothetical family scenarios to illustrate them. Treatments and therapies for selected RUSP genetic disorders are described that illustrate the benefits of early diagnosis. The book describes future prospects for the prevention, diagnosis, and treatment of genetic disorders detected by newborn screening, including experimental drug treatments, the possibility of newborn genome sequencing, and gene therapy.
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