Molecular Diagnostics

George P. Patrinos is Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy, Head of Division of Pharmacology and Biosciences of the same Department and holds adjunct Full Professorships at Erasmus MC, Faculty of Medicine, Rotterdam (the Netherlands) and the United Arab Emirates University, College of Medicine, Department of Genetics and Genomics, Al-Ain (UAE). Also, since March 2018, he is Chair of the Global Genomic Medicine Collaborative (G2MC) and since May 2023 Chairman of the Scientific Advisory Board of the ASPIRE Abu Dhabi Precision Medicine Research Institute. He has ample regulatory experience, as he served for 12.5 years as Full Member and Greece’s National representative in the CHMP Pharmacogenomics Working Party of the European Medicines Agency (EMA) and he is still an active member of the European Medicines Agency participating in expert panels to provide scientific advice where needed. George is currently Director of the Laboratory of Pharmacogenomics and Individualized Therapy, the first officially established academic pharmacogenomics laboratory in Greece. His group has keen interest in research covering disciplines from wet and dry lab and public health genomics projects, all focusing on pharmacogenomics and personalized medicine. In particular, his research interests involve discovery work and clinical implementation of pharmacogenomics, focusing in particular in psychiatry but also cardiology and oncology, genomics of rare disorders and transcriptional regulation of human fetal globin genes. Moreover, George’s group is internationally recognized for its involvement in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different populations worldwide and of genome informatics tools to translate genomic information into a clinically meaningful format. Also, George’s group has a keen interest in public health genomics to critically assess the impact of genomics to society and public health. George has more than 330 publications in peer-reviewed scientific journals, some of them in leading scientific journals, such as The Lancet and Lancet EBioMedicine. Also, he has co-authored and co-edited more than 15 textbooks, among which the renowned textbook “Molecular Diagnostics”, published by Academic Press, now in its 3rd edition, while he is the editor of “Translational and Applied Genomics” book series, published by Elsevier. Furthermore, since September 2020, he serves as Editor-In-Chief of the prestigious Pharmacogenomics Journal (TPJ), published by Nature Publishing Group, Associate Editor and member of the editorial board of several scientific journals and has been a member of several international boards and advisory and evaluation committees. Apart from that, George is the main co-organizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine with more than 50 conferences organized in more than 25 countries worldwide. Dr. George Patrinos is an Associate Professor at the University of Patras School of Health Sciences (Department of Pharmacy) in Patras, Greece with Adjunct positions in Rotterdam, the Netherlands and Al-Ain, United Arab Emirates. His research interests span the fields of molecular diagnostics, high-throughput mutation screening, the development of online mutation diagnostic tools, and the implementation of genomics into healthcare, particularly for health systems in developing countries. George Patrinos has published more than 170 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. Dr. Patrinos is also the co-author of Economic Evaluation in Genomic Medicine (2015) and co-Editor of Molecular Diagnostics, Second Edition (2009), both published by Elsevier, and serves as Communicating Editor for the journal Human Mutation. Additionally, he is co-organizer of the international meeting series “Golden Helix Symposia” and “Golden Helix Pharmacogenomics Days”. Prof. Dr. Wilhelm Ansorge is a Senior Research Scientist and coordinator of the Biochemical Instrumentation Programme at the European Molecular Biology Laboratory in Heidelberg, Germany. His research interests include the development of the first complete Human Genome microarray, with numerous applications in gene expression studies and high-throughput Molecular Diagnostics.

1. Molecular Diagnostics: Past, Present, and Future; 2. Allele-Specific Mutation Detection; 3. Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation; 4. Mutation Detection by Single Strand Conformation Polymorphism and Heteroduplex Analysis; 5. Capillary Electrophoresis; 6. Temperature and Denaturing Gradient Gel Electrophoresis; 7. Real-Time Polymerase Chain Reaction; 8. Pyrosequencing; 9. Application of Padlock and Selector Probes in Molecular Medicine; 10. Molecular Cytogenetics in Molecular Diagnostics; 11. Analysis of Human Splicing Defects Using Hybrid Minigenes; 12. Detection of Genomic Duplications and Deletions; 13. Multiplex Ligation-Dependent Probe Amplification (MLPA) and Methylation-Specific (MS)-MLPA: Multiplex Detection of DNA/mRNA Copy Number and Methylation Changes; 14. Molecular Techniques for DNA Methylation Studies; 15. High-Resolution Melting Curve Analysis for Molecular Diagnostics; 16. DNA Microarrays and Genetic Testing; 17. Arrayed Primer Extension Microarrays for Molecular Diagnostics; 18. Application of Proteomics to Disease Diagnostics; 19. RNA-Based Variant Detection: The Protein Truncation Test; 20. Protein Diagnostics by Proximity Ligation: Combining Multiple Recognition and DNA Amplification for Improved Protein Analyses; 21. Mass Spectrometry and its Applications to Functional Proteomics; 22. Pharmacogenetics and Pharmacogenomics: Impact on Druge Discovery and Clinical Care; 23. Nutrigenomics: Integrating Genomic Approaches into Nutrition Research; 24. Novel Next-Generation DNA Sequencing Techniques for Ultra High-Throughput Applications in Bio-Medicine; 25. Locus-Specific and National/Ethnic Mutation Databases: Emerging Tools for Molecular Diagnostics; 26. Molecular Diagnostic Applications in Forensic Science; 27. Mass Disaster Victim Identification ASsisted by DNA Typing; 28. Detection of Highly Pathogenic Viral Agents: Implications for Therapeutics, Vaccines and Biodefense; 29. Identification of Genetically Modified Organisms; 30. Molecular Diagnostics and Comparative Genomics in Clinical Microbiology; 31. Genetic Monitoring of Laboratory Rodents; 32. Safety Analysis in Retroviral Gene Therapy: Identifying Virus Integration Sites in Gene-Modified Cells; 33. Preimplantation Genetic Diagnosis; 34. Automated DNA Hybridization and Detection; 35. The Use of Microelectronic-Based Techniques in Molecular Diagnostic Assays; 36. Human Gene Patents and Genetic Testing; 37. Genetic Counseling and Ethics in Molecular Diagnostics; 38. Genetic Testing and Psychology; 39. General Considerations Concerning Safety in Biomedical Research Laboratories; 40. Quality Management in the Laboratory