Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Table of Contents

Chapter 1. Introduction
1.1. Whole Genome/Exome Sequencing
1.2. Transcriptomics (Rna-Seq) Of Rare Diseases
1.3. DNA Methylation (Methyl-Seq) In Rare Diseases
1.4. Long-Reads Sequencing For Rare Inherited Disorders
1.5. The International Rare Diseases Research Consortium

• Conclusion And Recommendations
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 2 Genetic Testing For Rare Genetic Disorders
1. Introduction
1.1. Genetic Testing And Its Scope
1.2. Screening And Diagnostic Testing
1.3. Why Genetic Testing?
2. Testing Technologies
2.1. Detection Of Targeted Allele Specific Mutation
2.2. Gene-Specific Sanger Sequencing
2.3. Testing For Structural Variations
2.4. Genetic Testing In The Ngs Era
3. Incidental Findings
4. Future Prospects And Challenges

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 3 Preimplantation, Prenatal, And Postnatal Diagnosis
1.1. Preimplantation Genetic Diagnosis (Pgd)
1.1.1. Pgd And In Vitro Diagnostic Procedures
1.1.2. Phases Of Pgd
1.1.3. Embryo Biopsy
1.1.4. Genetic Diagnostic Analysis
1.2. Prenatal Diagnosis (Pnd)
1.2.1. In Vivo Procedure Of Pnd
1.2.2. Sampling Of Fetus Cells
1.2.3. Genetic Diagnostic Analysis
1.3. Postnatal Diagnosis
1.3.1. Chromosomal Abnormalities
1.3.2. Monogenic (Mendelian) Diseases
1.3.3. Polygenic Diseases
2. Preimplantation, Prenatal, And Postnatal Diagnostic Techniques
2.1. Array Comparative Genomic Hybridization (Acgh)
2.2. Fluorescence In Situ Hybridization (Fish)
2.3. Next Generation Sequencing (Ngs)
2.4. Whole Genome Amplification (Wga)
3. Prenatal And Postnatal Diagnostic Techniques For Chromosomal Abnormalities, Monogenic, And Polygenic Diseases 37 3.1. Methylation Pcr
3.2. Amniocentesis
3.3. Karyotyping
3.4. Multiplex Ligation Dependent Probe Amplification (Mlpa)
3.5. Restriction Fragment Length Polymorphism (Rflp)
3.6. Quantitative Fluorescence Polymerase Chain Reaction (Qf-Pcr)
3.7. Cell Free Fetal DNA Analysis
3.8. Chromosomal Microarray Analysis
3.9. Chorionic Villus Sampling
4. Future Challenges In Preimplantation, Prenatal And Postnatal Diagnosis
5. Future Prospects

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 4 Genetic Counseling In Inherited Disorders
1. Introduction
2. Population Carrier Screening Mechanism
2.1. Thalassemia A Case Study
3. Risk Estimation
4. Clinical Practices
5. Ethical Issues
6. Future Prospects

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 5 Genome-Wide Association Studies (Gwas)
1. Introduction
1.1. Rationale
2. Benefits Of Gwas
3. Success Stories
3.1. Type 2 Diabetes
3.2. Autoimmune Diseases
3.3. Coronary Artery Disease (Cad)
4. Limitations Of Gwas
5. Post-Gwas Era: Prospects And Challenges

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 6 Regenerative Medicine
1. Introduction
2. Approaches To Rm
2.1. Cell-Based Therapy
2.1.1. Adult Stem Cells
2.1.2. Pluripotent Stem Cell-Based Cell Therapies
2.2. Biomaterials
2.3. Implantation Of Scaffold Seeded With Cells
3. Clinical Applications (Case Studies)
3.1. Bladder And Urethra
3.2. Blood Vessels
3.3. Heart
3.4. Liver
3.5. Skin
3.6. Bone
3.7. Cartilage Tissue
4. Challenges And Future Perspectives
4.1. Lack Of Robust Lineage-Specific Differentiation Protocols
4.2. Tumorigenicity
4.3. Immune Rejection
4.4. Heterogeneity

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 7 Emerging Omics And Genetic Disease
1. Introduction To Omics And Genetic Disease
2. Advanced Techniques In “Omics”
2.1. Emerging Omics Techniques: Genomics And Transcriptomics
2.1.1. Genomics
2.1.2. Transcriptomics
2.2. Emerging Omics Techniques: Proteomics And Metabolomics
2.2.1. Proteomics
2.2.2. Metabolomics
3. Omics And Diagnosis Of Genetic Diseases
3.1. Back To The Future
3.2. Advances In Omics Technologies For Disease Diagnosis (Examples)
3.3. Mendelian Disorders
3.4. Non-Mendelian/Common Disorders
4. Omics Databases
5. Omics: Genetic Disease Management And Therapeutics
6. Challenges And Opportunities
6.1. Reference Populations And Phenotyping

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 8 Integrated Bioinformatics And Computational Biology Approaches: Applications In Diagnosis And Therapeutics
1. Introduction
1.1. Exploration Of Disease-Associated Biomarkers
1.2. Computational Models As Tools To Identify Key Biomarkers
1.3. Annotation Of Disease Associated Mutations
1.4. Identification Of Epigenetic Drivers
2. Role Of Systems Bioinformatics (Network-Based Methods For Human Disease Gene Prediction)
2.1. Systems Modelling And Simulation
2.2. Network-Based Diagnostics And Therapeutics
2.3. Tools/ Data Bases Used In Diagnosis And Treatment Regimens
2.4. Contribution Of Bioinformatics In Cancer Diagnostics And Therapeutics
3. Application In Precision Medicine And Pharmacogenomics
3.1. Pharmacogenomics And Pharmacogenetics In Personalized Medicine
3.2. Pharmacogenomics And Pharmacogenetics In Drug Development
3.3. Pharmacogenomics In Establishment Of Drug Application Guidelines
4. Reverse Vaccinology-A Progressive Step Towards Therapeutic Innovation

• Concluding Remarks
• Consent For Publication
• Conflict Of Interest
• Acknowledgements
• References

Chapter 9 Multi-Omics Data Integration: Applications In Systems Genomics
1. Introduction
1.1. Advanced Techniques In “Omics”
1.2. Omics-Driven Targeted Therapy
1.3. Meta-Omics
1.4. Transcriptomics
1.5. Single-Dimensional Transcriptomic Assessment Versus Integrated Omics
1.6. Rewards Of Integrated Omics
2. Pathway Profiling Using System Genomics

Author

• Syeda Marriam Bakhtiar
• Erum Dilshad