GMC Domains

• THE DOCTOR AS A SCHOLAR
  • TD 8: APPLICATION OF BIOMEDICAL SCIENTIFIC PRINCIPLES, METHOD AND KNOWLEDGE
    • Medical knowledge: ANATOMY (TD 8.1)
    • Medical knowledge: PHYSIOLOGY (TD 8.2)
    • Medical knowledge: BIOCHEMISTRY (inc. Metabolism) (TD 8.3)
    • Medical knowledge: CELL BIOLOGY (TD 8.4)
    • Medical knowledge: MOLECULAR BIOLOGY and GENETICS (TD 8.5, 8.6)
    • Medical knowledge: PATHOLOGY (TD 8.7)
    • Medical knowledge: CANCER
    • Medical knowledge: IMMUNOLOGY and INFLAMMATION (TD 8.8)
    • Medical knowledge: MICROBIOLOGY and INFECTION (TD 8.9)
    • Medical knowledge: PHARMACOLOGY (TD 8.10)
    • Medical knowledge: NUTRITION (TD 8.11)
    • Medical knowledge: CLINICAL FEATURES of DISEASE (TD 8 b)
  • TD 9: APPLICATION OF PSYCHOLOGICAL PRINCIPLES, METHOD AND KNOWLEDGE
    • Medical knowledge: PSYCHOLOGY (TD 9 a-g)
  • TD 10: APPLICATION OF SOCIAL SCIENCE PRINCIPLES, METHOD AND KNOWLEDGE
    • Medical knowledge: SOCIOLOGY (TD 10 a-e)
  • TD 11. PRINCIPLES, METHODS AND KNOWLEDGE OF POPULATION HEALTH
    • Medical knowledge: PUBLIC HEALTH and GLOBAL HEALTH (TD 11 a-j)
  • TD 12; APPLICATION OF SCIENTIFIC METHOD AND APPROACHES TO MEDICAL RESEARCH
    • Medical knowledge: EPIDEMIOLOGY
    • Medical Knowledge: SCIENTIFIC METHOD & RESEARCH
• THE DOCTOR AS A PRACTITIONER
  • TD 13: CARRY OUT A CONSULTATION WITH A PATIENT
    • Clinical skills: HISTORY (TD 13 a-b)
    • Clinical skills: PHYSICAL EXAMINATION (TD 13 c)
    • Clinical skills: MENTAL STATE EXAMINATION (TD 13 d)
  • TD 14: DIAGNOSE AND MANAGE CLINICAL PRESENTATIONS
    • Clinical skills: INTERPRETING FINDINGS AND INITIAL ASSESSMENT (TD 14 a-b)
    • Clinical skills: PLANNING AND INTERPRETING INVESTIGATIONS (TD 14 c-d)
    • Clinical skills: MAKING A DIAGNOSIS and CLINICAL JUDGEMENT (TD 14 e-f)
    • Clinical skills: FORMULATING A TREATMENT PLAN (TD 14 g)
    • Clinical skills: SURGERY and ANAESTHETICS (TD 14 g)
    • Clinical skills: SUPPORTING PATIENTS and IDENTIFYING ABUSE and NEGLECT (TD 14 h-i)
    • Clinical Skills: CARE OF PATIENTS AND RELATIVES AT END OF LIFE (TD 14 j)
  • TD 15: COMMUNICATE EFFECTIVELY WITH PATIENTS AND COLLEAGUES
    • Clinical skills: INTERACTION WITH PATIENTS (TD 15 a-b)
    • Clinical skills: MANAGING INFORMATION (TD 15 c)
  • TD 16: PROVIDE IMMEDIATE CARE IN MEDICAL EMERGENCIES
    • Emergency Management of Patients (TD 16 b-e)
  • TD 17: PRESCRIBE DRUGS SAFELY, EFFECTIVELY AND ECONOMICALLY
    • Clinical skills: PRESCRIBING DRUGS SAFELY AND EFFECTIVELY (TD 17 a-h)
  • TD 18: CARRY OUT PRACTICAL PROCEDURES SAFELY AND EFFECTIVELY
    • Clinical skills: DIAGNOSTIC PROCEDURES (TD 18 a)
    • Clinical skills: THERAPEUTIC PROCEDURES (TD 18 b)
  • TD 19: USE INFORMATION EFFECTIVELY IN A MEDICAL CONTEXT
    • Clinical skills: EVIDENCE BASED MEDICINE
• THE DOCTOR AS A PROFESSIONAL
  • TD 20: BEHAVE ACCORDING TO ETHICAL AND LEGAL PRINCIPLES
    • Professional issues: ETHICS and LAW (TD 20 a-g)
  • TD 21: REFLECT, LEARN AND TEACH OTHERS
    • Professional Issues: PERSONAL LIMITS OF CARE (TD 21e)
    • Professional issues: LEARNING (TD 21 a-d)
    • Professional issues: TEACHING AND MENTORING (TD 21 f)
  • TD 22: LEARN AND WORK EFFECTIVELY WITHIN A MULT-PROFESSIONAL TEAM
    • Professional issues: WORKING IN TEAMS (TD 22 a-c)
  • TD 23: PROTECT PATIENTS AND IMPROVE CARE
    • Professional issues: DUTIES OF A DOCTOR (TD 23 a-b)
    • Professional issues: MEDICAL FRAMEWORK IN THE UK (TD 23 c)
    • Professional issues: RISK MANAGEMENT and PATIENT SAFETY (TD 23 d)
    • Professional issues: GOVERNANCE, QUALITY MATTERS and AUDIT (TD 23 e)
    • Professional issues: PERSONAL ATTITUDES and SELF CARE (TD 23 f-j)

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TD 8: APPLICATION OF BIOMEDICAL SCIENTIFIC PRINCIPLES, METHOD AND KNOWLEDGE: Medical knowledge: MOLECULAR BIOLOGY and GENETICS (TD 8.5, 8.6)

Introduction

Molecular Biology: The study of molecular structures and events underlying biological processes, including relationships between genes and the functional characteristics they determine.

Genetics: Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from Human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling of individuals with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye colour would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism).

Index

• General Outcomes for Genetics
• General Outcomes for Molecular Biology
• Genetics of Cardiorespiratory Disorders
• Genetics of Haematological Disorders

• General Outcomes for Genetics
  • Genetics - General Outcomes
    1. To be able to define the differences between monogenic and complex genetic diseases (CSP3)
    2. Evaluate the contribution of genetic and environmental factors to normal human variation and to disease
    3. What? The type of alteration of genetic material: molecular and cytogenetic, and subdivisions. (CSP3)
    4. Demonstrate an awareness of the fundamental mechanisms of genetic disorder, drawing on neurological examples (NEURO4)
    5. PCR and its uses in pre-natal diagnosis / pre-implantation genetic diagnosis
    6. How is pre-natal diagnosis and PGD performed
    7. Describe the breadth of inherited conditions (GEP/HD, HD2)
    8. How? (type of molecular biological consequence) (CSP3)
    9. Use of high density single nucelotide polymorphism (SNP) arrays of disease gene mapping and cancer diagnostics
    10. To have some knowledge of the methods used to map genes causing complex genetic diseases, for example the basics of linkage analyses and association studies (CSP3)
    11. Evaluate the likelihood of genotype specific drugs / therapies
    12. Describe the basic principles of Mendelian inheritance and understand the difference between monogenic, multigenic and multifactorial disorders
    13. Describe, with examples, the different patterns of inheritance of single gene disorders
    14. Where? (which cells are affected) (CSP3)
    15. Think about the ethical issues with respect to personal genome sequencing
    16. Old and new sequencing: how to sequence your genome for £2000
    17. To know some examples of complex gene traits where new genes have been mapped and what has been found and why it is important (CSP3)
    18. Understand the role of cytogenetics and molecular genetics in clinical diagnosis
    19. Understand the basic principles of population genetics with reference to allele frequencies and Hardy-Weinberg equilibrium (FM1)
    20. Who? (patterns of inheritance) (CSP3)
    21. Explain how genetic variation contributes to common disease (FM1)
    22. When? (at what point is the disease visible) (CSP3)
    23. These questions are applied to the following diseases in differing amounts of detail: Duchenne muscular dystrophy, Haemophilia A, X-linnked severe combined immune deficiency disorder, congenital deafness, Retinitis pigmentosa, Chondroplasia punctata, Hypophosphataemic rickets, Cystic fibrosis, Tay-Sachs, Haemachromatosis, Phenylketonuria,.Huntingdons disease, Achondroplasia, polycystic kidney, Fragile X mental retardation, Alzheimer’s disease, Down’s syndrome, Acquired uniparental disomy, Reigar syndrome, Preaxial polydactyly (CSP3)
    24. Duchenne muscular dystrophy, Haemophilia A, X-linked severe combined immune deficiency disorder, congenital deafness, Retinitis pigmentosa, Chondroplasia punctata, Hypophosphataemic rickets, Cystic fibrosis, Tay-Sachs, Haemachromatosis, Phenylketonuria,.Huntingdons disease, Achondroplasia, polycystic kidney, Fragile X mental retardation, Alzheimer's disease, Down's syndrome, Acquired uniparental disomy, Reigar syndrome, Preaxial polydactyly (CSP3)
    25. Gene therapy: the characteristics of a particular genetic disease that render gene therapy likely or unlikely to be successful. (CSP3)
  • The Human Genome
    1. Describe in outline the structure and organisation of the human genome
    2. Describe the structure and organisation of the human genome. (FM1)
    3. Understand the differences between coding and non-coding the DNA-sequences, introns and exons, control elements, pseudogenes, and repetitive sequences (FM1)
    4. Compare the different ways in which we can access the human genome
  • Chromosomal Genetics
    1. Describe the normal human karyotype and common methods used to identify individual chromosomes; explain benign copy-number-variation
    2. Define the terms used to denote variation in chromosome number: haploid, diploid, polyploid, aneuploid, monosomy, trisomy; list common aneuploidy syndromes, incidence, clinical picture and methods for pre-natal diagnosis
    3. Explain the three causes of Down's syndrome phenotype: classical trisomy 21; 14:21 Robertsonian translocation and somatic mosaicism
    4. Define the terms used to denote variation in chromosome structure: deletion; duplication; inversion; translocation; ring chromosome. Explain the importance of acquired chromosomal changes in cancer
    5. Define the functions of the X and Y chromosomes and the significance of Lyonisation in females
  • The Genome and Drug Discovery
    1. Be able to describe the main approaches and tools used to identify genes for common disease and drug response and safety
    2. Be able to give some examples of where genetic makeup affects drug effectiveness and safety; understand how this may contribute to drug discover
    3. Understand some of the ethical issues around genetic data and potential risks to the individual
  • Inheritance and Mutation
    1. Describe the different types of gene mutation and their consequences (FM1)
    2. Review the types of genetic mutation and how they affect the organism (FM1)
    3. Describe, with examples, the different patterns of inheritance of single gene disorders (FM1)
    4. Review the types of chromosomal mutations (FM1)
    5. Review the causes of genetic mutations (FM1)
    6. Describe how mutations in different genes can result in the same clinical disorder
    7. Explain how you could establish whether or not a mutation is pathogenic (GEP/HD)
    8. Define the following terms in relation to human genetics and disease: homozygous; heterozygous; proband; sibling; recessive; dominant; co-dominant; penetrance; anticipation; imprinting phenotype; genotype; allele (FM1)
    9. Discuss the implications for the families affected by a genetic disorder (GEP/HD, HD2)
  • Genetics of Autoimmune Disease
    1. Understand how genetic risk variants predisposing to human disease can be identified (CSP3)
    2. Understand the spectrum of risk variants (common, rare, SNPs, structural variants) (CSP3)
    3. Understand risk variants for selected chronic immune disease eg Type 1 Diabetes, Coeliac Disease, Crohn's Disease (CSP3)
    4. Role of HLA variants and immune disease risk: coeliac disease, ankylosing spondylitis as examples (CSP3)
    5. Role of new technologies: exome and whole genome sequencing. (CSP3)
    6. Taking risk variants forward for patient benefit: diagnosis, prognosis, new therapeutics (CSP3)
  • Genetic Variation
    1. Appreciate how much genetic variation we have: both rare and common variants (FM1)
    2. Understand how prenatal diagnosis and PGD can be performed (FM1)
    3. Discuss how DNA polymorphisms can be detected and how they may be used to identify individuals (FM1)
    4. Appreciate how genetic variation may determine treatment options (FM1)
    5. Think about the ethical issues with respect to personal genome sequencing (FM1)
  • Genetic Markers
    1. Explain how candidate genes may be selected, both on the basis of their position and function (GEP/HD, HD2)
  • Epigenetics
    1. Define the term epigenetics (FM1)
    2. Describe the role of epigenetic marks in controlling gene expression (FM1)
    3. Understand the extent to which epigenetics impacts on human disease (FM1)
  • Genetics of Antibiotic Resistance
    1. Be able to describe the key features of plasmids, insertion sequences, transposons and integrons and understand their role in mobility of antibiotic resistance genes. (CSP3)
    2. Be able to understand the differences between bacterial and eukaryotic genes (CSP3)
    3. Be able to outline the mechanism of transfer of DNA between bacterial cells; conjungation, transformation and transduction (CSP3)
    4. Know the major biochemical mechanisms of resistance - destruction of drug, modification of drug, drug impermeability or efflux, target modification, target bypass (CSP3)
    5. Understand that resistance can disseminate by spread of resistant strains, spread of mobile genetic elements and spread of resistance genes (CSP3)
    6. Understand the potential sources of antibiotic resistance genes and the significance of horizontal gene transfer in the evolution and spread of antibiotic resistance among pathogenic bacteria (CSP3)
• General Outcomes for Molecular Biology
  • DNA Structure and Synthesis
    1. Describe, using simple diagrams, the structure of DNA and its organisation into nucleosomes, chromatin and chromosomes (FM1)
    2. Outline the mechanism of DNA replication (synthesis) and describe how some antibiotics interfere in this process (FM1)
    3. Explain the very low level of mistakes in the DNA replication process (FM1)
    4. Outline methods of DNA repair with examples of inherited DNA repair defects (FM1)
  • RNA Structure and Synthesis
    1. Describe the Central Dogma and the basic structure of a gene (FM1)
    2. Describe the process of transcription and explain the function of RNA polymerase (FM1)
    3. Explain what a promoter is and its role in transcription (FM1)
    4. How is RNA modified before leaving the nucleus? (FM1)
    5. Describe the different types of RNA and their role in translation (FM1)
    6. Describe how antibiotics can interfere in the process of transcription (FM1)
  • Protein Synthesis
    1. Outline the key features of the genetic code (FM1)
    2. What are the essential RNA species for translation (FM1)
    3. Describe the events and regulation in the ribosome cycle of protein synthesis (FM1)
    4. Describe the structural changes undergone by a newly synthesised polypeptide in order to constitute a biologically active protein in the appropriate site (post-translational modifications / targeting and sorting) (FM1)
    5. How does viral and bacterial interference effect protein translation (FM1)
    6. Know that antibiotics are used to target ribosomes (FM1)
    7. Outline protein synthesis defects in inherited disease (FM1)
  • Control of Gene Expression
    1. Understand the basic processes involved in eukaryotic gene expression
    2. Describe, with examples, the various levels at which eukaryotic gene expression can be controlled
    3. Discuss the interaction of protein factors and DNA regulatory elements in the control of transcription in eukaryotic cells
    4. Know how drugs / hormones can influence gene expression
  • Cell Division and its Control
    1. Describe the main features of the cell cycle (FM1)
    2. Describe the main mechanisms and biological functions of mitosis and meiosis (FM1)
    3. Discuss the role of genes in co-ordinating the cell cycle (FM1)
    4. Give examples of human diseases associated with mutations in these genes (FM1)
    5. Explain how some chemotherapeutic drugs may inhibit cell division in cancer cells (FM1)
  • Forensic Molecular Pathology
    1. Appreciate the difference in requirements when analysing DNA for medical and criminal justice purposes
    2. Gain an understanding of what is meant by a DNA Profile
    3. Learn about how different parts of the human genome provide molecular tools that are used for intelligence and crime-fighting purposes
• Genetics of Cardiorespiratory Disorders
  • Cystic Fibrosis
    1. Describe the genetic mutation of cystic fibrosis and explain current theories as to how this leads to lung disease (CR3)
• Genetics of Haematological Disorders
  • Haemoglobinopathies (Sickle Cell & Thalassaemia)
    1. Understand how the genetic alterations affect the normal physiology of haemoglobin and the red cell and what the clinical consequences (CR3)
    2. Understand the genetics of sickle cell disease and thalassaemia; define sickle cell disease and sickle cell trait (CR3)
    3. Be aware of the clinical consequences of the genetic alterations
    4. Describe the genetics of beta-thalassaemia and sickle cell.
    5. Describe how these genetic alterations affect the normal physiology of haemoglobin and the red cell; and the clinical consequences.

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