The Gale Encyclopedia of Genetic Disorders Volume 1 1st Edition by Stacey Blachford ISBN 0787656127 9780787656126

Entries provide information on genetic diseases and conditions, covering such topics as DNA, genetic testing, and chromosomes.

 

The Gale Encyclopedia of Genetic Disorders Volume 1 1st Edition Table of contents:

Volume 1

Chapter 1: Introduction to Genetic Disorders

• Overview of Genetic Disorders: Types and Classification
• Genetic Inheritance Patterns: Autosomal Dominant, Autosomal Recessive, X-linked
• The Role of Mutations in Genetic Disorders
• Diagnostic Techniques for Genetic Disorders

Chapter 2: Genetic Counseling and Ethical Considerations

• The Role of Genetic Counseling in Diagnosis and Management
• Ethical Issues in Genetic Testing and Screening
• Genetic Testing: Informed Consent and Privacy Concerns
• Prenatal and Preconception Genetic Counseling

Chapter 3: Chromosomal Abnormalities

• Down Syndrome (Trisomy 21): Characteristics and Diagnosis
• Turner Syndrome (45, X): Symptoms and Management
• Klinefelter Syndrome (47, XXY): Features and Treatment Options
• Other Chromosomal Disorders: Edwards Syndrome, Patau Syndrome

Chapter 4: Single Gene Disorders

• Autosomal Dominant Disorders: Huntington’s Disease, Marfan Syndrome
• Autosomal Recessive Disorders: Cystic Fibrosis, Sickle Cell Anemia
• X-linked Disorders: Duchenne Muscular Dystrophy, Hemophilia
• Mitochondrial Disorders: Leber’s Hereditary Optic Neuropathy

Chapter 5: Metabolic Genetic Disorders

• Phenylketonuria (PKU): Causes, Diagnosis, and Management
• Tay-Sachs Disease: Genetic Basis and Clinical Manifestations
• Galactosemia: Types and Treatment Approaches
• Lysosomal Storage Diseases: Gaucher Disease, Niemann-Pick Disease

Chapter 6: Neurological Genetic Disorders

• Rett Syndrome: Genetic Mechanisms and Treatment Strategies
• Fragile X Syndrome: Genetic Etiology and Behavioral Symptoms
• Neurofibromatosis: Type 1 and Type 2
• Spinocerebellar Ataxia and Other Neurodegenerative Disorders

Chapter 7: Cardiovascular Genetic Disorders

• Familial Hypercholesterolemia: Diagnosis and Management
• Hypertrophic Cardiomyopathy: Genetic Causes and Clinical Implications
• Long QT Syndrome: Risk Factors and Treatments
• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Chapter 8: Cancer and Genetic Disorders

• Hereditary Breast and Ovarian Cancer Syndrome (BRCA1/BRCA2)
• Lynch Syndrome: Genetic Basis and Cancer Risks
• Retinoblastoma: Genetic Predisposition and Treatment Options
• Other Inherited Cancers: Li-Fraumeni Syndrome, Familial Adenomatous Polyposis

Chapter 9: Connective Tissue and Skeletal Disorders

• Ehlers-Danlos Syndrome: Types and Clinical Manifestations
• Osteogenesis Imperfecta: Genetic Causes and Bone Fragility
• Marfan Syndrome: Effects on Connective Tissue and Cardiovascular System
• Achondroplasia and Other Dwarfism Syndromes

Chapter 10: Immunological and Infectious Disease Genetic Disorders

• Severe Combined Immunodeficiency (SCID): Genetic Basis and Treatments
• Chronic Granulomatous Disease: Diagnosis and Management
• Cystic Fibrosis and its Role in Respiratory Infections
• Other Genetic Disorders of the Immune System

Chapter 11: Sensory and Hearing Disorders

• Usher Syndrome: Genetics and Symptoms of Deaf-Blindness
• Pendred Syndrome: Causes of Hearing Loss and Thyroid Dysfunction
• Alport Syndrome: Genetic Causes of Hearing Loss and Kidney Disease
• Other Genetic Causes of Hearing Loss and Visual Impairments

Chapter 12: Rare and Undiagnosed Genetic Disorders

• Prader-Willi Syndrome: Characteristics and Treatment Strategies
• Angelman Syndrome: Diagnosis and Neurodevelopmental Outcomes
• Albinism: Genetic Variants and Impact on Vision and Skin
• Other Rare Genetic Disorders with Elusive Etiologies

Chapter 13: Advances in Genetic Research and Treatments

• Gene Therapy: Potential and Current Applications
• CRISPR-Cas9 and Genetic Editing for Genetic Disorders
• Advances in Personalized Medicine for Genetic Disorders
• Emerging Treatments and Clinical Trials

Chapter 14: Genetic Research and Future Directions

• The Role of Genomic Databases in Disease Identification
• Whole Genome Sequencing: Implications for Diagnosis and Treatment
• Ethical Challenges in Genetic Research and Clinical Applications
• Future of Genetic Counseling and Precision Medicine

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