GEMD-101 Revision PDF

GEMD-101 Revision Week 1 1. Describe the basic structure of the human cell 2. Define the levels of protein structure and correlate with protein function providing examples 3. Outline the basic routes of protein trafficking inside the cell 4. Outline the structure and function of the cell m...

GEMD-101 Revision Week 1 1. Describe the basic structure of the human cell 2. Define the levels of protein structure and correlate with protein function providing examples 3. Outline the basic routes of protein trafficking inside the cell 4. Outline the structure and function of the cell membrane and cell junctions 5. Outline the basic structure and key functions of cellular organelles and the cytoskeleton 6. Discuss, with examples, the implications of dysfunction of cellular organelles 7. Outline the process of cell signalling and provide examples of how this process might be manipulated for therapeutic purposes Week 2 1. Describe the structure of DNA and chromatin and compare intragenic and extragenic DNA 2. Describe the basic structure of the human gene 3. Discuss the concept of genetic variation and discuss its role in the aetiology of disease 4. Describe the classification of genetic variants in terms of its effect on gene function and functional implications for the encoded polypeptide 5. Define the modes of inheritance of genetic disease and apply probabilities’ principles 6. Describe the basic structure of the human chromosome 7. Describe structural variants of the human chromosome and outline their clinical relevance 8. Outline the process of transcription and discuss its regulation 9. Define epigenetic regulation and outline the different mechanisms 10. Discuss the role of non-coding RNAs in health and disease 11. Outline the process of RNA splicing and discuss how its disturbance can cause disease 12. Outline the process of translation and discuss its regulation 13. Outline post-translational modifications and discuss their significance and clinical correlates 14. Briefly outline techniques to study the transcriptome and proteome Week 3 1. Describe mitotic cell division 2. Describe the cell cycle and its regulation 3. Discuss the dysregulation of the cell cycle and the clinical consequences 4. Outline the process of DNA replication 5. List the potential errors during DNA replication and discuss their potential implication if they remain uncorrected 6. Outline how the cellular machinery identifies and corrects DNA errors 7. Discuss the clinical implications of genetic defects in the DNA- correcting machinery of the cell and the clinical implications of DNA transposition 8. Outline the different types of cell death and discuss the role of programmed cell death 9. Describe the structure and function of telomeres and their role in the aging cell, and the main aging theories Week 4 1. Outline the key events in the neoplastic process and metastasis, and the main involved signalling pathways 2. Distinguish between driver and passenger mutations 3. Define oncogenes and describe how they contribute to the development of neoplasia 4. Explain how the different types of tumour suppressor genes prevent the development of neoplasia 5. Define Knudson’s two-hit hypothesis 6. Discuss the implications of germline mutations in genes that relate to the neoplastic process 7. Describe the clinical features of the main cancer predisposition syndromes (such as Lynch syndrome and BRCA-associated breast and ovarian cancer) and explain their genetic basis 8. Define precision oncology and describe the challenges associated with delivering precision oncology to patients with cancer Week 5 1. Define personalised medicine 2. Discuss how genetic studies in populations can contribute to the management of genetic diseases 3. Describe the basis of sequencing techniques such as Sanger and next generation sequencing and discuss clinical applications 4. Outline basic techniques for visualizing the human chromosomes and describe the basis of molecular cytogenetic techniques such as array comparative genomic hybridization and discuss clinical applications 5. Interpret a basic electropherogram 6. Use appropriate symbols to construct a genogram depicting the inheritance of genetic disease 7. Interpret the notation used in genetic reports and discuss the significance of results 8. Explain the limitations of genomic risk profiling and the pitfalls of direct-to-consumer genetic testing 9. Discuss the implications of variable access and utilisation of genetic testing 10. Describe the process of obtaining informed consent for genetic testing, identify potential challenges, and explain common pitfalls in the testing process 11. Examine core issues in bioethics, with a particular focus on the ethical considerations surrounding the use of genetics in healthcare, including implications for patient autonomy and public health 12. Analyse the ethical issues associated with genetic testing, focusing on principles of autonomy, informed consent, and confidentiality, and how these principles are applied in clinical settings 13. Explain how the association between genetic variants and disease phenotypes is established through genome-wide association studies (GWAS) 14. Define the terms `Epidemiology’ and `Public Health’ 15. Outline the potential value of studying health and disease in populations 16. Distinguish between descriptive and analytic epidemiology 17. Explain the concepts of DALYs, QALYs, Life Expectancy (LE), Health Adjusted LE (HALE), incidence, prevalence, incidence rate and mortality as metrics for the study of disease in populations 18. Define the different levels of prevention and appreciate their value in Public Health practice Week 6 1. Define gene therapy and outline the different types of methodological approaches 2. Briefly outline gene cloning and gene editing techniques and discuss their research and clinical applications 3. Outline current applications and limitations of gene therapy 4. Define stem cells and compare and contrast embryonic and somatic stem cells 5. Briefly outline the process of somatic stem cell reprogramming to induce pluripotency and discuss the applications of this technique 6. Describe how genetic disorders can be cured by stem cell and tissue engineering approaches 7. Outline how stem cell technology and precision gene therapy can be united to treat genetic diseases 8. Illustrate how targeted treatments can be tailored to the specific mutations causing genetic disease 9. Explore the ethical questions and challenges associated with medical scientific research, particularly in the context of stem cell research and therapy, and evaluate the implications for future medical practice 10. Outline the patient safety considerations during the development of novel therapies using gene therapy and gene editing techniques as examples