Embryos, Genes, and Birth Defects brings up to date our understanding of birth defects and of the strategies utilized to gain such knowledge.

Features:

• Features new chapters on human cytogenetics, mutagenesis and the eyes and ears
• Presents key topics in developmental biology and explains how they provide the foundations for understanding clinical birth defects
• Introduces concepts and strategies adopted to elucidate developmental anomalies leading to birth defects
• Focuses on specific organs and reviews the cellular and molecular mechanisms affecting their development and how disruption of these mechanisms by genetic or environmental factors may underlie certain birth defects

Contents

The Relationship between Genotype and Phenotype: Some Basic Concepts

• The relationship between genotype and phenotype
• The role of ‘model systems’
• The changing concept of homology

Uses of Databases in Dysmorphology

• What is a syndrome
• Some of these problems are addressed by dysmorphology databases
• Where databases do not help
• Dysmorphology databases
• How databases work

Human Cytogenetics

• Population cytogenetics
• Structural anomalies
• The genesis of chromosome abnormalities
• Embryo survival
• The cause of high levels of chromosome abnormality in human embryos
• Relative parental risks – age, translocations, inversions, gonadal and germinal mosaics

Identification and Analysis of Genes Involved in Congenital Malformation Syndromes

• Gene identification
• Biological analysis of genes implicated in birth defect syndromes
• Animal models
• Why study rare human birth defect syndromes

Transgenic Technology and Its Role in Understanding Normal and Abnormal Mammalian Development

• Transgenic mice
• Genetic manipulation using gene targeting in ES cells

Chemical Teratogens: Hazards, Tools and Clues

• Teratogens and human malformations
• General strategy in chemical teratogenesis
• Valproic acid
• Gene–teratogen interaction
• Teratogens and phenocopies
• Teratogens as manipulative tools
• Teratogens as clues

The Limbs

• Developmental anatomy of the human limb
• Main classes of limb defects
• Contemporary studies on mechanisms of limb development
• Limb regeneration
• How, when and where experimental studies elucidate abnormal development

Brain and Spinal Cord

• Overview of nervous system development
• Defects of CNS development: towards a genetic and developmental understanding

Birth Defects Affecting the Eye

• The eye
• Development of the eye
• Congenital eye defects and paediatric blindness
• Gene mutations underlying congenital eye defects
• Cellular and molecular mechanisms affecting eye development and how they elucidate the causes of abnormal development

The Ear

• Development of the outer and middle ear
• Development of the inner ear
• Main classes of ear defects
• Mechanisms involved in development of the outer and middle ear
• Mechanisms underlying inner ear development
• Mechanisms underlying development of inner ear sensory epithelia
• Mechanisms involved in endolymph homeostasis

Development of the Enteric Nervous System in Relation to Hirschsprung’s Disease

• Anatomy and function of the ENS
• The best-characterized developmental defect of the ENS – Hirschsprung’s disease
• Cell biology of ENS development
• Molecular biology of ENS development and Hirschsprung-like dysplasias
• HSCR: current and future treatments

The Head

• Developmental anatomy
• Main classes of craniofacial defect
• Cellular and molecular mechanisms

The Heart

• Developmental anatomy
• Major cell populations needed for heart development
• Molecular regulation of heart development
• Cardiovascular defects

The Skin

• Developmental anatomy
• Main classes of skin defects

The Vertebral Column

• Developmental anatomy of the vertebral column
• Making the vertebral column

The Kidney

• Structure and function
• Developmental anatomy of nephrogenesis
• Transcription factors
• Growth factors and their receptors
• Survival/proliferation factors
• Cell adhesion molecules
• Other molecules
• Non-genetic causes of renal malformations

The Teeth

• Developmental anatomy
• Main classes of defects
• Cellular and molecular mechanisms affecting development
• How cellular and molecular developmental mechanisms assist in elucidating the causes of abnormal development

Index

click here to see books of related interest