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Genetics for Pediatricians The Molecular Genetic Basis of Pediatric Disorders 1st Edition by Mohnish Suri, Ian Young ISBN 1901346633 9781901346633

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Genetics for Pediatricians The Molecular Genetic Basis of Pediatric Disorders 1st Edition Mohnish Suri Digital Instant Download

Author(s): Mohnish Suri, Ian Young
ISBN(s): 9781901346633, 1901346633
Edition: 1
File Details: PDF, 1.43 MB
Year: 2005
Language: english
SKU: EB-1983988 Category: Tags: ,

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Product details:

ISBN 10: 1901346633 
ISBN 13: 9781901346633
Author: Mohnish Suri, Ian Young

A new volume in the Genetics Series – convenient reference guides designed to help clinicians apply the wealth of new genetic information to their clinical practice. The series is edited by medical geneticist Eli Hatchwell of Cold Spring Harbor Laboratory, New York, and each book is authored by respected authorities in the field.

Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years – the number of conditions that have been mapped or in which the causative gene has been isolated is vast.

In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.

For pediatricians, medical geneticists, and genetics counselors.

Genetics for Pediatricians The Molecular Genetic Basis of Pediatric Disorders 1st Table of contents:

Part 1: Introduction to Genetics in Pediatrics

Chapter 1: Fundamentals of Genetics and Genomics

  • Overview of Genetics: Key Concepts

  • Structure of DNA and Gene Expression

  • Chromosomes and Inheritance Patterns

  • Genetic Variation and Mutations

Chapter 2: Molecular Genetics in Pediatric Medicine

  • Genomic Technologies in Diagnosis

  • The Role of Molecular Genetics in Understanding Disease

  • Clinical Applications of Genomics

Chapter 3: Genetic Counseling and Ethical Considerations

  • The Role of Genetic Counseling in Pediatric Practice

  • Ethical Dilemmas in Pediatric Genetic Testing

  • Parental Decision-Making and Consent

Part 2: Genetic Disorders in Pediatric Populations

Chapter 4: Single-Gene Disorders

  • Autosomal Dominant and Recessive Disorders

  • X-linked Inheritance

  • Examples: Cystic Fibrosis, Duchenne Muscular Dystrophy, Sickle Cell Anemia

Chapter 5: Chromosomal Disorders

  • Chromosome Abnormalities: Trisomies, Deletions, and Duplications

  • Common Chromosomal Syndromes: Down Syndrome, Turner Syndrome, Klinefelter Syndrome

  • Diagnosis and Management

Chapter 6: Mitochondrial Genetic Disorders

  • Overview of Mitochondrial DNA

  • Inherited Mitochondrial Disorders

  • Clinical Implications and Treatment Options

Part 3: Complex and Multifactorial Disorders

Chapter 7: Multifactorial Genetic Disorders in Pediatrics

  • Understanding Polygenic Traits

  • The Role of Environment in Genetic Disorders

  • Examples: Asthma, Type 1 Diabetes, Congenital Heart Defects

Chapter 8: Genetic and Epigenetic Contributions to Cancer

  • Pediatric Cancers and Their Genetic Basis

  • Epigenetic Modifications in Cancer Cells

  • Genetic Screening for Pediatric Cancers

Part 4: Advances in Genetic Testing and Personalized Medicine

Chapter 9: Genetic Testing in Pediatric Practice

  • Types of Genetic Tests: Screening, Diagnostic, and Predictive Testing

  • Next-Generation Sequencing (NGS) in Pediatrics

  • Genetic Testing for Rare and Undiagnosed Diseases

Chapter 10: Pharmacogenomics in Pediatric Medicine

  • Personalized Medicine in Pediatrics

  • Genetic Testing for Drug Response

  • Future Directions in Pediatric Pharmacogenomics

Chapter 11: Gene Therapy and Emerging Treatments

  • Gene Editing Technologies: CRISPR/Cas9

  • Gene Therapy for Pediatric Genetic Disorders

  • Ethical and Clinical Considerations

Part 5: Specific Pediatric Genetic Disorders

Chapter 12: Genetic Disorders of the Nervous System

  • Neurogenetic Disorders in Pediatrics

  • Examples: Fragile X Syndrome, Rett Syndrome, Neurofibromatosis

  • Genetic Testing and Management

Chapter 13: Genetic Disorders of Metabolism

  • Inborn Errors of Metabolism

  • Examples: Phenylketonuria (PKU), Galactosemia, Mucopolysaccharidoses

  • Early Detection and Management

Chapter 14: Genetic Disorders of the Skeletal System

  • Osteogenesis Imperfecta and Other Skeletal Dysplasias

  • Diagnosis, Management, and Prognosis

Chapter 15: Genetic Syndromes Affecting the Heart and Blood Vessels

  • Genetic Causes of Congenital Heart Disease

  • Hereditary Hemorrhagic Telangiectasia, Marfan Syndrome

  • Genetic Diagnosis and Interventions

Part 6: Clinical Applications and Case Studies

Chapter 16: Case Studies in Pediatric Genetics

  • Real-World Applications of Genetic Testing in Pediatric Cases

  • Case Study 1: Diagnosis of a Genetic Disorder

  • Case Study 2: Genetic Counseling for Parents

Chapter 17: Genetic Screening in Neonatal and Pediatric Care

  • Newborn Screening Programs

  • Identifying Genetic Disorders Early

  • Screening Protocols and Guidelines

Chapter 18: The Future of Pediatric Genetics

  • Emerging Technologies in Pediatric Genetics

  • The Role of Artificial Intelligence in Genetic Diagnosis

  • Personalized Medicine: Challenges and Opportunities

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Tags: Mohnish Suri, Ian Young, Genetics, Pediatricians