Precision medicine is a disruptive innovation with a fast-evolving pace in the healthcare ecosystem. Precision medicine enables precise diagnosis and targeted treatment by considering individual variability in the abnormalities of causative genes and molecular drivers behind biochemical mechanisms. A vast amount of data created by advanced omics technologies is a foundation of precision medicine’s success, and the implications of the findings from these technologies can potentially improve clinical outcomes.
Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine presents essential information of molecular and translational research in precision medicine, with a specific focus on pediatrics. This book provides an accessible introduction to omics technologies, gives a detailed explanation of bioinformatics workflows to interpret high-throughput omics profiles for molecular diagnosis, and collects some of the cutting-edge research for precise therapeutics. Contributions to the book have been provided by experts in biomedical engineering and clinical practice, thus, bringing an informed perspective to the reader on each topic. The book is a valuable resource for postgraduate students, researchers, data scientists and clinicians interested in precision medicine, as well as researchers in the field of genetics and pediatrics who are interested in understanding the role of precision medicine in clinical practice.
Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine presents essential information of molecular and translational research in precision medicine, with a specific focus on pediatrics. This book provides an accessible introduction to omics technologies, gives a detailed explanation of bioinformatics workflows to interpret high-throughput omics profiles for molecular diagnosis, and collects some of the cutting-edge research for precise therapeutics. Contributions to the book have been provided by experts in biomedical engineering and clinical practice, thus, bringing an informed perspective to the reader on each topic. The book is a valuable resource for postgraduate students, researchers, data scientists and clinicians interested in precision medicine, as well as researchers in the field of genetics and pediatrics who are interested in understanding the role of precision medicine in clinical practice.
Table of Contents
Chapter 1 Translational Research In Pediatric Precision Medicine- Somchai Chutipongtanate And Suradej Hongeng
- Introduction
- The Concepts Of Translational Research And Precision Medicine
- Translational Research
- Precision Medicine
- Developing Capacity Of Translational Research In Pediatric Precision Medicine
- Biobanking
- Omics Technologies
- Data Management And Resources
- Future Prospects And Concluding Remarks
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 2 Bioinformatics In Precision Medicine
- James Reigle, Phillip J. Dexheimer, Behrouz Shamsaei, Alexander Thorman, Somchai Chutipongtanate And Jarek Meller
- Introduction
- General Concepts
- Genomics
- Transcriptomics
- Proteomics
- Post-Translational Modifications (Ptm)
- Metabolomics
- Metagenomics
- Bioinformatics
- The Concept Of Molecular Signature
- Genomic Workflow
- Transcriptomic Workflow
- Quality Control (Qc)
- Read Mapping (Or Alignment)
- Read Count Normalization
- Differential Expression And Functional Interpretation
- Unsupervised Clustering
- Volcano Plot
- Enrichment Analysis
- Proteomic Workflow
- Metabolomic Workflow
- Targeted
- Untargeted
- Data Analysis
- Metaboanalyst
- Metagenomic Workflow
- Multi-Omics & Concluding Remarks
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 3 Artificial Intelligence In Medicine
- Danai Khemasuwan
- Introduction
- Definition Of Machine Learning
- Supervised Learning Algorithms
- Unsupervised Learning Algorithms
- Deep Learning
- Artificial Intelligence For Clinicians
- Computer Vision
- Dermatology
- Radiology
- Ophthalmology
- Pathology
- Pulmonary
- Natural Language Processing
- Limitations And Challenges
- Conclusion
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 4 Using Next Generation Sequencing For Diagnosis Of Suspected Genetic Disorders
- Parith Wongkittichote, Pisut Pongchaikul And Duangrurdee Wattanasirichaigoon
- Introduction
- Variant, Variant Classification And Interpretation
- Approaches Of Clinical Ngs
- Secondary Findings
- Diagnostic And Clinical Utility Of Clinical Ngs
- Ethical Issues And Condluding Remarks
- Consent For Publication
- Conflict Of Interest
- Acknowledgements
- References
Chapter 5 Pharmacogenomics And Perioperative Translational Medicine
- Sirirat Rattana-Arpa And Patcharee Sriswasdi
- Introduction
- General Concepts
- Developmental Pharmacogenomics Concept
- What Is Perioperative Medicine?
- Recent Trends In Perioperative Translation Medicine
- Opioids
- Fentanyl
- Codeine
- Morphine
- Oxycodone
- Tramadol
- Methadone
- Hydrocodone And Hydromorphone
- Inhalation Agents
- Intravenous Induction Agents
- Propofol
- Ketamine
- Neuromuscular Blocking Agents
- Succinylcholine
- Rocuronium
- Sedative Drugs
- Diazepam
- Midazolam
- Conclusion
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 6 Proteomics: Moving Toward Precision Medicine
- Somchai Chutipongtanate And Pankaj Dwivedi
- Introduction
- Proteomic Approaches
- Bottom-Up Proteomics Vs. Top-Down Proteomics
- Discovery Proteomics Vs. Targeted Proteomics
- Quantitative Proteomics
- Downstream Data Analysis
- Protein And Peptide Identification
- Preprocessing
- Normalization
- Missing Value Imputation
- Data Analysis And Visualization
- Differential Expression Analysis
- Volcano Plot
- Heatmap
- Machine Learning (Ml)
- Surrogate Variable Analysis (Sva) & Co-Variates Calculation
- Overrepresentation Enrichment Analysis
- Protein Network Analysis
- Proteomic Applications In Precision Medicine
- Biomarkers For Precise Diagnosis
- Mechanistic Insights For Precision Treatment With Focus On Posttranslationally Modified Proteins
- Concluding Remarks And Future Prospects
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 7 Metabolomics And Precision Medicine
- James Reigle, Khyati Mehta And Somchai Chutipongtanate
- Introduction
- The Concept Of Metabolomic Signature
- Metabolomic Approaches
- Targeted Vs. Untargeted Analysis
- Data Acquisition By Nmr, Gc-Ms, Or Lc-Ms Platforms
- Data Preprocessing And Analysis
- Data Preprocessing
- Missing Value Imputation
- Data Filtering
- Normalization
- Transformation
- Data Analysis And Visualization
- Visualizing Data Distribution
- Fold Change Analysis
- Significance Test (Parametric - T-Test; Non-Parametric - Wilcoxon)
- Volcano Plot
- Principal Component Analysis (Pca)
- Partial Least Squares - Discriminant Analysis (Pls-Da)
- Cluster Analysis
- Machine Learning Classification
- Pathway Enrichment Analysis
- Potential Applications Of Metabolomics In Precision Medicine
- Conclusion
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 8 Genetically Modified Hematopoietic Stem Cells For Gene Therapy In Beta-Thalassemia: Power Of Viral Vector Towards Clinical Application
- Kanit Bhukhai, Suparerk Bowornpinyo And Suradej Hongeng
- Introduction
- Cell And Gene Therapy For The Treatment Of Β-Thalassemia
- Β-Globin Vector Development And Preclinical Evaluation
- Clinical Trial In Β-Thalassemia Patients
- Concluding Remarks And Future Prospects
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 9 Molecular Therapeutic Approach Focusing On Kinases
- Pankaj Dwivedi And Somchai Chutipongtanate
- Introduction
- Biology Of Kinase World (“Kinome”)
- Disease Biology And Dysfunctional Kinome (“Yin And Yang Phenomenon”)
- Kinome Therapeutics (“Therapeutic's Holy Grail”)
- Kinome Therapeutics In Pediatric Diseases
- Conclusion
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 10 Membrane Attacking Peptides: A New Involving Cancer Therapy
- Wararat Chiangjong, Suradej Hongeng And Somchai Chutipongtanate
- Introduction
- Normal Cells Vs Cancer Cells
- Membrane Components
- Stability And Molecular Transports
- Membrane And Peptide Interaction
- Clinical Trials In Cancer Therapeutic Peptides
- Concluding Remarks And Future Perspectives
- Consent For Publication
- Conflict Of Interest
- Acknowledgments
- References
Chapter 11 Chimeric Antigen Receptor (Car) T Cell For Pediatric Solid Tumors: The Next Frontier In Cancer Treatment
- Thitinee Vanichapol, Somchai Chutipongtanate, Usanarat Anurathapan And Suradej Hongeng
- Introduction
- The State Of Immunotherapy For Pediatric Solid Tumors
- Concept And Evolution Of Cars
- General Principle Of Car Design
- The Single-Chain Variable Fragment
- Hinge/Spacer Domains
- Transmembrane Domain
- Intracellular Domain
- Recent Clinical Advances In Car T Cell Therapy For Pediatric Solid Tumors
- Sarcoma
- Brain Tumor
- Neuroblastoma
- Roadblocks For Successful Car T Cell Therapies
- Safety Concerns: The Side Effect Profile And Toxicity
- T Cell Trafficking
- Tumor Microenvironment
- Immune Suppressive Cells
- Inhibitory Signals In The Tme
- Metabolic Challenges And T Cell Dysfunction
- Moving Forward Car T Cells From The Bench To The Bedside: Commercialization Of Car T Therapy
- Future Prospects: The Next Generation Of Cars
- Combination Strategies
- Empowering Car To Withstand The Tme
Author
- Somchai Chutipongtanate
- Suradej Hongeng
