Molecular Genetic Medicine

Contributors

Preface


1 Milestones and Events in the Early Development of Human Gene Therapy

I. Phase 1. Prior to 1970: Genetically Marked Cells and DNA-Mediated Transformation

II. Phase 2. The Cline Experiment, Efficient Vectors, In Vitro Models, and the Maturing Ethical and Public Policy Debate

III. Phase 3. The Regulatory Process and the First Direct Clinical Applications: The Recombinant Advisory Committee (RAC), Its Gene Therapy Subcommittee, and the Food and Drug Administration (FDA)

References


2 Molecular Biology of Cystic Fibrosis

I. Introduction and History

II. Identification of the CF Gene

III. Mechanism of CFTR Function

IV. Genotype/Phenotype Relationships

V. Carrier Screening

VI. Therapeutic Prospects

VII. Summary

References


3 Genetics of Astrocytic Tumor Progression

I. Cancer is a Genetic Disease

II. Multistep Carcinogenesis

III. Tumor Progression

IV. Phenotypes of the Malignant Process

V. Mechanisms in Tumor Progression

VI. Clinical-Pathologic Correlation

VII. Biology of Astrocytic Tumors

VIII. Genetics of Astrocytic Tumors

IX. A Clonal Evolution Model for Astrocytic Tumors

X. Testing the Genetic Model

XI. Conclusion

References


4 Molecular Biology of Alzheimer's Disease

I. Introduction

II. History

III. Epidemiology

IV. Genetics

V. Clinical and Neuropsychological Features

VI. Diagnosis

VII. Treatment

VIII. Nerve Growth Factor and Related Molecules in the Central Nervous System

IX. Central Actions of Nerve Growth Factor

X. NGF-Related Trophic Factors: The Neurotrophins

XI. Neurotrophin Receptors

XII. NGF Mechanism of Action

XIII. A Model of Trophic Factor Action in Neurodegenerative Disease

XIV. Molecular Neuropathology

XV. Amyloid Deposition in Alzheimer's Disease

XVI. βΑΡΡ Processing

XVII. Conclusion: Clinical and Societal Implications

References


5 Hunting for Huntington's Disease

I. Introduction

II. Finding a Landmark near HD

III. Which Way to the Prey?

IV. Physical Layout of the Search Area

V. Tools for Tracking

VI. Limiting the Hunt Using Crossovers in Disease Pedigrees

VII. The Historical Trail of HD in Allele Associations

VIII. What is the Nature of the Quarry?

References

Note Added in Proof: Hunting's Done!


6 Genetics, Insurance, and the Ethics of Genetic Counseling

I. Introduction: Genetic Prediction and the Challenge to Insurance

II. Health Insurance

III. Life Insurance

IV. Ethical Conflicts of Providers of Genetic Services

V. Conclusion

References

Index